ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.594+15A>G

dbSNP: rs1791795919
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272623 SCV002556502 uncertain significance Ehlers-danlos syndrome, arthrochalasia type, 2 2020-05-06 criteria provided, single submitter clinical testing The COL1A2 c.594+15A>G variant is a single nucleotide change from an adenine to a guanine 15bp into intron 12 of the gene. The variant has not been described in the literature to date. The variant has not been reported in dbSNP and is absent from population databases (PM2). The variant has not been reported in the ClinVar or HGMD disease databases. The effect of this variant on splicing is unknown. Pathogenic intronic variants have been reported in other collagen disorders.

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