ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7834T>C (p.Ser2612Pro)

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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 RCV004818997 SCV005439032 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Q criteria provided, single submitter clinical testing The observed missense c.7834T>C p.Ser2612Pro variant in PLEC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser2612Pro variant is present with allele frequency of 0.0009% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism predict no damaging effect on protein structure and function for this variant. The reference amino acid of p.Ser2612Pro in PLEC is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 2612 is changed to a Pro 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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