ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser)

gnomAD frequency: 0.00066  dbSNP: rs113695182
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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 RCV001346098 SCV001540271 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547050 SCV003660643 uncertain significance Inborn genetic diseases 2021-02-19 criteria provided, single submitter clinical testing The c.6295G>A (p.G2099S) alteration is located in exon 49 (coding exon 49) of the HSPG2 gene. This alteration results from a G to A substitution at nucleotide position 6295, causing the glycine (G) at amino acid position 2099 to be replaced by a serine (S). The p.G2099S alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001346098 SCV003809303 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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