ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln)

gnomAD frequency: 0.00001  dbSNP: rs558798136
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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 RCV001169991 SCV001251807 uncertain significance Schwartz-Jampel syndrome 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859100 SCV002268266 uncertain significance not provided 2022-05-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). ClinVar contains an entry for this variant (Variation ID: 915382). This variant is present in population databases (rs558798136, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 397 of the HSPG2 protein (p.Arg397Gln).
Ambry Genetics RCV002558698 SCV003719064 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.1190G>A (p.R397Q) alteration is located in exon 9 (coding exon 9) of the HSPG2 gene. This alteration results from a G to A substitution at nucleotide position 1190, causing the arginine (R) at amino acid position 397 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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