ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)

gnomAD frequency: 0.00003  dbSNP: rs1318966349
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734707 SCV000862871 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239053 SCV001411898 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 175 of the FKRP protein (p.Leu175Pro). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FKRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 598338). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002343606 SCV002646142 uncertain significance Cardiovascular phenotype 2022-04-19 criteria provided, single submitter clinical testing The p.L175P variant (also known as c.524T>C), located in coding exon 1 of the FKRP gene, results from a T to C substitution at nucleotide position 524. The leucine at codon 175 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000734707 SCV003832627 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825484 SCV002088955 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2019-10-28 no assertion criteria provided clinical testing

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