ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.509T>G (p.Val170Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720637 SCV005329383 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.509T>G (p.Val170Gly) variant in CRPPA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val170Gly variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (SIFT - damaging; Polyphen - probably damaging; MutationTaster - disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Val170Gly in CRPPA is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Val at position 170 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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