ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys)

dbSNP: rs375451997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757539 SCV000885800 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2018-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855894 SCV002172679 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1120 of the MYO15A protein (p.Arg1120Cys). This variant is present in population databases (rs375451997, gnomAD 0.006%). 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: 618744). 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.
GeneDx RCV001855894 SCV002559282 uncertain significance not provided 2023-07-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004027144 SCV004947547 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.3358C>T (p.R1120C) alteration is located in exon 2 (coding exon 1) of the MYO15A gene. This alteration results from a C to T substitution at nucleotide position 3358, causing the arginine (R) at amino acid position 1120 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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