ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.626G>A (p.Arg209His)

dbSNP: rs771109111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594352 SCV000708247 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV002532618 SCV003296405 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 209 of the FKTN protein (p.Arg209His). This variant is present in population databases (rs771109111, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 501761). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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