ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.9611C>T (p.Thr3204Met)

gnomAD frequency: 0.00006  dbSNP: rs138463714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002795370 SCV003031502 uncertain significance not provided 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 3204 of the HSPG2 protein (p.Thr3204Met). This variant is present in population databases (rs138463714, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1988846). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV002795370 SCV003809316 uncertain significance not provided 2019-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004632075 SCV005121869 uncertain significance Inborn genetic diseases 2024-06-02 criteria provided, single submitter clinical testing The c.9611C>T (p.T3204M) alteration is located in exon 71 (coding exon 71) of the HSPG2 gene. This alteration results from a C to T substitution at nucleotide position 9611, causing the threonine (T) at amino acid position 3204 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002795370 SCV005907053 uncertain significance not provided 2024-10-07 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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