ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser)

gnomAD frequency: 0.01604  dbSNP: rs79760961
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV002229766 SCV002512120 benign Nonsyndromic genetic hearing loss 2021-06-15 reviewed by expert panel curation The filtering allele frequency (the lower threshold of the 95% CI of 511/11092) of the p.Arg746Ser variant in the MYO15A gene is 4.27% for African chromosomes (including 8 homozygous observations) by gnomAD, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1). Additionally, computational prediction analysis using the metapredictor tool REVEL suggests that the variant may not impact the protein (BP4). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel : BA1, BP4.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220411 SCV000269320 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg746Ser in Exon 02 of MYO15A: This variant is not expected to have clinical si gnificance because it has been identified in 2.6% (42/1612) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs79760961).
Eurofins Ntd Llc (ga) RCV000220411 SCV000343248 benign not specified 2016-07-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000428684 SCV000510905 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000220411 SCV000717184 benign not specified 2017-12-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000428684 SCV001115790 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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