ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)

gnomAD frequency: 0.00001  dbSNP: rs1164727838
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809005 SCV000949139 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 106 of the FKRP protein (p.Pro106Ser). 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: 653261). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FKRP 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.
GeneDx RCV001772089 SCV002002019 uncertain significance not provided 2020-02-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002325575 SCV002610011 uncertain significance Cardiovascular phenotype 2021-07-07 criteria provided, single submitter clinical testing The p.P106S variant (also known as c.316C>T), located in coding exon 1 of the FKRP gene, results from a C to T substitution at nucleotide position 316. The proline at codon 106 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002487746 SCV002782920 uncertain significance 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 2021-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825610 SCV002088946 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-03-27 no assertion criteria provided clinical testing

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