ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)

gnomAD frequency: 0.00001  dbSNP: rs150591365
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000259787 SCV000342832 uncertain significance not provided 2016-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239898 SCV001412801 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 122 of the FKTN protein (p.Asn122Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). 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: 288661). 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.
Genome-Nilou Lab RCV001563974 SCV001787045 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563975 SCV001787046 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563976 SCV001787047 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2M 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021259 SCV003577774 uncertain significance Cardiovascular phenotype 2024-01-29 criteria provided, single submitter clinical testing The p.N122K variant (also known as c.366T>G), located in coding exon 3 of the FKTN gene, results from a T to G substitution at nucleotide position 366. The asparagine at codon 122 is replaced by lysine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001239898 SCV002079562 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-09-22 no assertion criteria provided clinical testing

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