ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys)

gnomAD frequency: 0.00001  dbSNP: rs774852908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002239462 SCV002508798 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 349 of the ISPD protein (p.Gln349Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs774852908, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with ISPD-related conditions. 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.
GeneDx RCV002291807 SCV002584434 uncertain significance not provided 2022-04-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 26687144)

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