ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)

gnomAD frequency: 0.00013  dbSNP: rs374912618
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594573 SCV000705100 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Invitae RCV000634068 SCV000755346 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 446 of the FKTN protein (p.Asn446Ser). This variant is present in population databases (rs374912618, gnomAD 0.04%). 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: 499551). 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 C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV000766042 SCV000897481 uncertain significance Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384299 SCV002694506 uncertain significance Cardiovascular phenotype 2023-02-23 criteria provided, single submitter clinical testing The p.N446S variant (also known as c.1337A>G), located in coding exon 9 of the FKTN gene, results from an A to G substitution at nucleotide position 1337. The asparagine at codon 446 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV000594573 SCV003832703 uncertain significance not provided 2020-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000634068 SCV002081990 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-07-02 no assertion criteria provided clinical testing

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