ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.118G>A (p.Val40Met)

gnomAD frequency: 0.00010  dbSNP: rs148637119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002505138 SCV002815168 uncertain significance Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B 2021-07-03 criteria provided, single submitter clinical testing
Invitae RCV002515999 SCV003326159 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 40 of the MYH3 protein (p.Val40Met). This variant is present in population databases (rs148637119, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of MYH3-related conditions (PMID: 31030430). ClinVar contains an entry for this variant (Variation ID: 161596). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH3 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.
Science for Life laboratory, Karolinska Institutet RCV000149132 SCV000088774 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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