ClinVar Miner

Submissions for variant NM_138638.5(CFL2):c.169G>A (p.Val57Met)

gnomAD frequency: 0.00026  dbSNP: rs200536303
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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 RCV001226528 SCV001398845 uncertain significance Nemaline myopathy 7 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 57 of the CFL2 protein (p.Val57Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs200536303, ExAC 0.2%). This variant has not been reported in the literature in individuals affected with CFL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 954128). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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