ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.13135C>T (p.Arg4379Cys)

gnomAD frequency: 0.00001  dbSNP: rs576049096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002845758 SCV003620495 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.13135C>T (p.R4379C) alteration is located in exon 96 (coding exon 96) of the HSPG2 gene. This alteration results from a C to T substitution at nucleotide position 13135, causing the arginine (R) at amino acid position 4379 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135247 SCV003809234 uncertain significance not provided 2019-01-25 criteria provided, single submitter clinical testing

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