ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.548G>A (p.Arg183Gln)

gnomAD frequency: 0.00003  dbSNP: rs750639438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507447 SCV001713026 uncertain significance not provided 2020-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001507447 SCV001991283 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001507447 SCV004552332 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 183 of the MYH14 protein (p.Arg183Gln). This variant is present in population databases (rs750639438, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MYH14-related conditions. ClinVar contains an entry for this variant (Variation ID: 1162846). 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 MYH14 protein function with a positive predictive value of 80%. 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.

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