ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002465018 SCV002759411 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2022-07-01 criteria provided, single submitter clinical testing The c.9369C>A variant is not present in 1000 Genomes and EVS. The heterozygous state of the variant is present in gnomAD and Indian Exome Database, at a low frequency. The variant is not present in our in-house exome database. The variant was not reported to ClinVar, HGMD and/or OMIM databases, in any affected individuals. Predictions from different in-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD, Varsome etc. are contradictory. This individual harbours another heterozygous variant (c.5977C>T) in the MYO15A gene, which was previously reported as pathogenic (ClinVar Accession: VCV001185079.7).
Labcorp Genetics (formerly Invitae), Labcorp RCV003775486 SCV004631548 benign not provided 2024-03-16 criteria provided, single submitter clinical testing

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