ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.635A>G (p.Asp212Gly)

dbSNP: rs1554658784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533653 SCV000630173 uncertain significance Arthrogryposis, distal, type 1A 2019-05-08 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TPM2-related disease. This sequence change replaces aspartic acid with glycine at codon 212 of the TPM2 protein (p.Asp212Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine.

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