ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.305A>G (p.Lys102Arg)

gnomAD frequency: 0.00001  dbSNP: rs757253023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211793 SCV001383350 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 102 of the FKTN protein (p.Lys102Arg). This variant is not present in population databases (gnomAD no frequency). 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: 941920). 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001211793 SCV002078759 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-10-19 no assertion criteria provided clinical testing

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