ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) (rs45629132)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV000710328 SCV000840517 uncertain significance Nonsyndromic hearing loss and deafness 2018-09-17 reviewed by expert panel curation The filtering allele frequency of the p.Arg336His variant in the MYO7A gene is 0.20% (275/126030) of European chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which is a higher frequency than would be expected for an autosomal recessive pathogenic hearing loss variant based on the thresholds defined by the ClinGen Hearing Loss Expert Panel (BS1_Supporting). Computational prediction tools and conservation analysis suggest that the p.Arg336His variant may impact the protein (PP3). In summary, the clinical significance of this variant is uncertain. ACMG/AMG criteria applied: PP3, BS1_Supporting.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036038 SCV000059690 likely benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.Arg336His in exon 10 of MYO7A: This variant is not expected to have clinical s ignificance because it has been identified in 0.2% (125/66438) of European chrom osomes including 1 homozygous individual by the Exome Aggregation Consortium (Ex AC, http://exac.broadinstitute.org; dbSNP rs45629132). This variant has been re ported in the literature; however, there is no evidence to support pathogenicity . It was identified in a family with autosomal dominant hearing loss but found n ot to segregate with disease and therefore assumed to be benign (Luijendijk 2004 ). It was also identified in the heterozygous state in a proband with Usher synd rome without a second variant (Jaijo 2006).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036038 SCV000339775 likely benign not specified 2016-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765013 SCV000896197 uncertain significance Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001034270 SCV001197607 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109645 SCV001267006 likely benign Deafness, autosomal dominant 11 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001109646 SCV001267007 likely benign Deafness, autosomal recessive 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001109647 SCV001267008 likely benign Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197445 SCV001368190 uncertain significance Coloboma of optic disc; Iris coloboma 2019-09-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. This variant was detected in heterozygous state.

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