ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.2599G>A (p.Gly867Arg)

gnomAD frequency: 0.00005  dbSNP: rs147301154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135656 SCV003809253 uncertain significance not provided 2019-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985293 SCV005603588 uncertain significance Inborn genetic diseases 2024-11-14 criteria provided, single submitter clinical testing The c.2599G>A (p.G867R) alteration is located in exon 19 (coding exon 19) of the HSPG2 gene. This alteration results from a G to A substitution at nucleotide position 2599, causing the glycine (G) at amino acid position 867 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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