ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys)

dbSNP: rs570850437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895771 SCV001039836 benign not provided 2022-11-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000895771 SCV003809227 uncertain significance not provided 2020-09-29 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003338846 SCV004048473 uncertain significance Schwartz-Jampel syndrome type 1 criteria provided, single submitter clinical testing The missense variant c.10028G>A (p.Arg3343Lys) in HSPG2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg3343Lys variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.04061% is reported in gnomAD. The amino acid Arg at position 3343 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Arg3343Lys in HSPG2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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