ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) (rs762283381)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000356554 SCV000344125 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Invitae RCV000469653 SCV000548524 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 302 of the FKRP protein (p.Gly302Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a FKRP-related disease. ClinVar contains an entry for this variant (Variation ID: 289722). 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 and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on FKRP function. 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 RCV000765454 SCV000896745 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

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