ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala)

dbSNP: rs142783718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918560 SCV002180859 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-10-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 125 of the FKTN protein (p.Gly125Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs142783718, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002344011 SCV002621264 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.G125A variant (also known as c.374G>C), located in coding exon 4 of the FKTN gene, results from a G to C substitution at nucleotide position 374. The glycine at codon 125 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003120742 SCV003801023 uncertain significance not specified 2023-01-21 criteria provided, single submitter clinical testing

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