ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.319G>T (p.Ala107Ser)

dbSNP: rs750679682
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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) RCV000369694 SCV000344726 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001327233 SCV001518298 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-08-05 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 107 of the FKRP protein (p.Ala107Ser). 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: 290217). 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 RCV004992165 SCV005581290 uncertain significance Cardiovascular phenotype 2024-09-05 criteria provided, single submitter clinical testing The c.319G>T (p.A107S) alteration is located in exon 4 (coding exon 1) of the FKRP gene. This alteration results from a G to T substitution at nucleotide position 319, causing the alanine (A) at amino acid position 107 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835769 SCV002088948 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-01-17 no assertion criteria provided clinical testing

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