ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3814-2A>T

dbSNP: rs1660350150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808133 SCV002058642 pathogenic Retinitis pigmentosa 19 2022-01-03 criteria provided, single submitter clinical testing Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS).The variant has been reported to be associated with ABCA4 related disorder (3billion dataset). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002468642 SCV002764645 pathogenic Stargardt disease 2022-12-19 no assertion criteria provided research PVS1,PM2,PP5

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