ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.12622G>A (p.Asp4208Asn)

gnomAD frequency: 0.00003  dbSNP: rs760393137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002570962 SCV002929211 uncertain significance not provided 2023-12-11 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 4208 of the HSPG2 protein (p.Asp4208Asn). This variant is present in population databases (rs760393137, gnomAD 0.008%). 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: 1900042). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004983002 SCV005603579 uncertain significance Inborn genetic diseases 2024-10-21 criteria provided, single submitter clinical testing The c.12622G>A (p.D4208N) alteration is located in exon 91 (coding exon 91) of the HSPG2 gene. This alteration results from a G to A substitution at nucleotide position 12622, causing the aspartic acid (D) at amino acid position 4208 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002570962 SCV005902816 uncertain significance not provided 2024-09-30 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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