Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 |
RCV000725835 | SCV000339767 | uncertain significance | not provided | 2016-03-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
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, |
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, |
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- |
RCV000405741 | SCV001805959 | likely benign | Autosomal dominant nonsyndromic hearing loss 11 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000303792 | SCV001806008 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000358625 | SCV001806009 | uncertain significance | Usher syndrome type 1 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
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. |
Gene |
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, |
RCV001274698 | SCV001459066 | uncertain significance | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |