ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.851T>C (p.Ile284Thr)

gnomAD frequency: 0.00001  dbSNP: rs752106950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789010 SCV000928342 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2018-03-05 criteria provided, single submitter clinical testing PP3
GeneDx RCV003317366 SCV004021679 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003317366 SCV004519775 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 276 of the MYH14 protein (p.Ile276Thr). This variant is present in population databases (rs752106950, gnomAD 0.006%). 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: 637025). 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. 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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