ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His)

gnomAD frequency: 0.00001  dbSNP: rs773476384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnosis Center for Deafness RCV002225030 SCV001984950 likely pathogenic Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003560841 SCV004298165 pathogenic not provided 2023-06-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2775 of the MYO15A protein (p.Arg2775His). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYO15A protein function. ClinVar contains an entry for this variant (Variation ID: 1301962). This missense change has been observed in individuals with nonsyndromic deafness (PMID: 23767834, 30733538, 30953472, 35346193).

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