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	2018-10-16	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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