ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1844_1850del (p.Pro615fs)

dbSNP: rs2115917238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775432 SCV002012320 pathogenic Ehlers-danlos syndrome, arthrochalasia type, 2 2021-10-02 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). Patient's phenotype is considered compatible with Ehlers-Danlos syndrome, arthrochalasia type, 2 (3billion dataset, PP4).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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