ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.106G>T (p.Ala36Ser)

gnomAD frequency: 0.00001  dbSNP: rs1412050261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241301 SCV001414310 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 36 of the FKRP protein (p.Ala36Ser). This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 966584). 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. 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 RCV004619580 SCV005118137 uncertain significance Cardiovascular phenotype 2024-04-28 criteria provided, single submitter clinical testing The p.A36S variant (also known as c.106G>T), located in coding exon 1 of the FKRP gene, results from a G to T substitution at nucleotide position 106. The alanine at codon 36 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001828973 SCV002088931 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-08-20 no assertion criteria provided clinical testing

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