ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.2767G>T (p.Val923Leu)

gnomAD frequency: 0.00014  dbSNP: rs746388623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332137 SCV001524355 uncertain significance Freeman-Sheldon syndrome 2020-01-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546533 SCV003267270 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 923 of the MYH3 protein (p.Val923Leu). This variant is present in population databases (rs746388623, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MYH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030560). 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 MYH3 protein function with a negative predictive value of 95%. 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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