ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp)

gnomAD frequency: 0.00001  dbSNP: rs765929865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697613 SCV000826234 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 5 of the FKTN protein (p.Asn5Asp). This variant is present in population databases (rs765929865, gnomAD 0.0009%). 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: 575410). 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 RCV003303156 SCV003997506 uncertain significance Cardiovascular phenotype 2023-06-05 criteria provided, single submitter clinical testing The p.N5D variant (also known as c.13A>G), located in coding exon 1 of the FKTN gene, results from an A to G substitution at nucleotide position 13. The asparagine at codon 5 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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