ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala)

gnomAD frequency: 0.00004  dbSNP: rs775130663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415372 SCV000492617 uncertain significance Hearing impairment 2015-03-25 criteria provided, single submitter clinical testing
Invitae RCV002524664 SCV003461804 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing 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. 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 MYH14 protein function. ClinVar contains an entry for this variant (Variation ID: 373967). This variant is also known as c.5105T>C (p.Val1702Ala). This missense change has been observed in individual(s) with clinical features of MYH14-related conditions (PMID: 29293505). This variant is present in population databases (rs775130663, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1661 of the MYH14 protein (p.Val1661Ala).
CeGaT Center for Human Genetics Tuebingen RCV002524664 SCV004140528 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing MYH14: BP4

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