Submissions for variant NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)

dbSNP: rs1555738483

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000673672	SCV000798900	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2I	2018-03-28	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003465529	SCV004197436	likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	2023-03-09	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586874	SCV005076377	uncertain significance	not specified	2024-04-26	criteria provided, single submitter	clinical testing	Variant summary: FKRP c.502T>C (p.Cys168Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. c.502T>C has been reported in the literature in one individual affected with congenital muscular dystrophy type 1C, Autosomal Recessive (Fu_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 27439679, 32864802). ClinVar contains an entry for this variant (Variation ID: 557519). Based on the evidence outlined above, the variant was classified as uncertain significance.