ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1115T>G (p.Val372Gly)

dbSNP: rs771793862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178353 SCV000230419 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Invitae RCV001852212 SCV002119035 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-05-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 372 of the FKRP protein (p.Val372Gly). This variant is present in population databases (rs771793862, gnomAD 0.001%). This missense change has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 197341). 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.

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