ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg)

gnomAD frequency: 0.00001  dbSNP: rs149085844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546620 SCV000630812 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 352 of the FKTN protein (p.Ser352Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs149085844, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. 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 disruptive. 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.
Natera, Inc. RCV000546620 SCV002081964 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-01-14 no assertion criteria provided clinical testing

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