ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) (rs758759348)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459145 SCV000548511 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-09-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 110 of the FKRP protein (p.Arg110Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. While this variant is present in population databases (rs758759348), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in individuals affected with limb-girdle muscular dystrophy type 2I (LGMD2I) (PMID: 18036232, 21296577, 25135358). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000765451 SCV000896742 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991999 SCV001143935 uncertain significance not provided 2018-12-03 criteria provided, single submitter clinical testing

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