Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
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). |
Ce |
RCV002524664 | SCV004140528 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | MYH14: BP4 |