ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1240C>A (p.His414Asn)

dbSNP: rs2054934982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343686 SCV001537685 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 414 of the FKRP protein (p.His414Asn). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and asparagine. 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FKRP-related conditions. This variant is not present in population databases (ExAC no frequency).

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