ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)

gnomAD frequency: 0.00001  dbSNP: rs752582904
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000263428 SCV000331838 likely pathogenic not provided 2015-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001065681 SCV001230652 pathogenic Walker-Warburg congenital muscular dystrophy 2023-09-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs752582904, gnomAD 0.002%). This missense change has been observed in individual(s) with congenital muscular dystrophy (PMID: 11592034, 11741828, 16368217, 25135358). 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: 197347). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FKRP protein function. This variant disrupts the p.Pro316 amino acid residue in FKRP. Other variant(s) that disrupt this residue have been observed in individuals with FKRP-related conditions (PMID: 12654965, 12666124, 16368217), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 316 of the FKRP protein (p.Pro316Arg).
Fulgent Genetics, Fulgent Genetics RCV002500502 SCV002805422 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-09-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462286 SCV004197448 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2022-07-12 criteria provided, single submitter clinical testing

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