ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn)

gnomAD frequency: 0.00004  dbSNP: rs780545355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169990 SCV001251806 uncertain significance Schwartz-Jampel syndrome 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001361626 SCV001557605 uncertain significance not provided 2022-04-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2212 of the HSPG2 protein (p.Asp2212Asn). This variant is present in population databases (rs780545355, gnomAD 0.01%). This missense change has been observed in individual(s) with intellectual disability (PMID: 29302074). ClinVar contains an entry for this variant (Variation ID: 915381). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001361626 SCV001990715 uncertain significance not provided 2020-03-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29302074)

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