ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro)

dbSNP: rs568612566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752584 SCV001997475 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 to our knowledge
3billion RCV001810313 SCV002059100 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2022-01-03 criteria provided, single submitter clinical testing The varaint is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.772, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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