ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)

gnomAD frequency: 0.00001  dbSNP: rs773305645
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338247 SCV000339287 uncertain significance not provided 2016-02-04 criteria provided, single submitter clinical testing
Invitae RCV001246019 SCV001419348 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 148 of the FKTN protein (p.Asp148Gly). This variant is present in population databases (rs773305645, gnomAD 0.06%). 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: 286032). 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 RCV002328780 SCV002633176 uncertain significance Cardiovascular phenotype 2022-02-11 criteria provided, single submitter clinical testing The p.D148G variant (also known as c.443A>G), located in coding exon 4 of the FKTN gene, results from an A to G substitution at nucleotide position 443. The aspartic acid at codon 148 is replaced by glycine, an amino acid with 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.
Revvity Omics, Revvity RCV000338247 SCV003832671 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001246019 SCV002079573 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-10-28 no assertion criteria provided clinical testing

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