ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1315T>C (p.Ser439Pro)

dbSNP: rs758196050
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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 RCV001935262 SCV002175020 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 439 of the FKTN protein (p.Ser439Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs758196050, ExAC 0.006%). This variant has not been reported in the literature in individuals with FKTN-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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