ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.6980C>T (p.Ser2327Leu)

gnomAD frequency: 0.00003  dbSNP: rs752127859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519334 SCV000621792 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000519334 SCV002113528 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 2327 of the MYO15A protein (p.Ser2327Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs752127859, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with MYO15A-related conditions. ClinVar contains an entry for this variant (Variation ID: 452943). 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 not expected to disrupt MYO15A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005018897 SCV005644763 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2024-04-04 criteria provided, single submitter clinical testing

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