ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) (rs281865195)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517242 SCV001725712 benign Leber congenital amaurosis 4 2020-10-26 criteria provided, single submitter clinical testing
OMIM RCV000005909 SCV000026091 pathogenic Juvenile retinitis pigmentosa, AIPL1-related 2000-06-01 no assertion criteria provided literature only
OMIM RCV000005910 SCV000026092 pathogenic CONE-ROD DYSTROPHY, AIPL1-RELATED 2000-06-01 no assertion criteria provided literature only
Retina International RCV000086210 SCV000118354 not provided not provided no assertion provided not provided
Reproductive Health Research and Development,BGI Genomics RCV000005910 SCV001142467 uncertain significance CONE-ROD DYSTROPHY, AIPL1-RELATED 2020-01-06 no assertion criteria provided curation NM_014336.3:c.1053_1064delTGCAGAGCCACC in the AIPL1 gene has an allele frequency of 0.01 in Ashkenazi Jewish subpopulation in the gnomAD database. It has been detected in two individuals with cone-rod dystrophy (PMID: 10873396). This in-frame deletion happens in a repetitive region without known function. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BP3, PP4.

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