ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.3529-3C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002646986 SCV002980108 uncertain significance not provided 2021-12-12 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change falls in intron 27 of the HSPG2 gene. It does not directly change the encoded amino acid sequence of the HSPG2 protein. It affects a nucleotide within the consensus splice site. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.
Ambry Genetics RCV002646985 SCV003580581 uncertain significance Inborn genetic diseases 2021-10-19 criteria provided, single submitter clinical testing The c.3529-3C>T intronic alteration consists of a C to T substitution 3 nucleotides before exon 27 of the HSPG2 gene. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (2/249902) total alleles studied. The highest observed frequency was 0.01% (2/34526) of Latino alleles. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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