ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.315G>T (p.Gln105His)

gnomAD frequency: 0.00001  dbSNP: rs765444642
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231603 SCV001404131 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-05-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 105 of the FKRP protein (p.Gln105His). 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: 958437). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002322116 SCV002608058 uncertain significance Cardiovascular phenotype 2022-05-24 criteria provided, single submitter clinical testing The p.Q105H variant (also known as c.315G>T), located in coding exon 1 of the FKRP gene, results from a G to T substitution at nucleotide position 315. The glutamine at codon 105 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145442 SCV003832628 uncertain significance not provided 2020-08-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828848 SCV002088945 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-03-17 no assertion criteria provided clinical testing

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