ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)

gnomAD frequency: 0.00023  dbSNP: rs201839693
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218429 SCV000272146 uncertain significance not specified 2016-03-31 criteria provided, single submitter clinical testing The p.Arg430Cys variant in MYO7A has not been previously reported in individuals with hearing loss, but has been identified in 6/9550 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 201839693). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analysis suggest that the p.Arg430Cys variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg430Cys variant is uncertain.
Eurofins Ntd Llc (ga) RCV000725835 SCV000339767 uncertain significance not provided 2016-03-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405741 SCV000374231 uncertain significance Autosomal dominant nonsyndromic hearing loss 11 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000303792 SCV000374232 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000358625 SCV000374233 uncertain significance Usher syndrome type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV000405741 SCV001805959 likely benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000303792 SCV001806008 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000358625 SCV001806009 uncertain significance Usher syndrome type 1 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725835 SCV002400724 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020628 SCV004953996 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.1288C>T (p.R430C) alteration is located in exon 12 (coding exon 11) of the MYO7A gene. This alteration results from a C to T substitution at nucleotide position 1288, causing the arginine (R) at amino acid position 430 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000725835 SCV005327438 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in association with MYO7A-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 35885997)
Natera, Inc. RCV001274698 SCV001459066 uncertain significance Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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