ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) (rs878855080)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670321 SCV000795160 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV000234060 SCV000290702 uncertain significance Walker-Warburg congenital muscular dystrophy 2016-03-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 219 of the FKRP protein (p.Gly219Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a FKRP-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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