ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.296C>T (p.Ser99Leu)

gnomAD frequency: 0.00001  dbSNP: rs768260007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301055 SCV000337563 uncertain significance not provided 2015-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246865 SCV001420254 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-06-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 99 of the FKTN protein (p.Ser99Leu). This variant is present in population databases (rs768260007, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of FKTN-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 284798). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
GeneDx RCV000301055 SCV002578669 uncertain significance not provided 2022-04-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21520333, 30564623)

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