ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)

dbSNP: rs1230638385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241623 SCV001414653 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-10-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 399 of the FKRP protein (p.Glu399Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Athena Diagnostics RCV001288179 SCV001475116 uncertain significance not provided 2020-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480806 SCV002793034 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-08-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828983 SCV002091342 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-01-27 no assertion criteria provided clinical testing

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