ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)

dbSNP: rs751691851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755992 SCV000883684 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing The CRB1 c.1292C>T; p.Thr431Ile variant (rs751691851), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is not reported in the ClinVar database, but is listed in the Genome Aggregation Database in 0.08% (25/30782 alleles) of the South Asian population. The threonine at codon 43 is moderately conserved across species and computational algorithms (PolyPhen-2, SIFT) predict this variant is tolerated. Considering available information, there is insufficient evidence to classify the variant with certainty. Pathogenic CRB1 variants are causative for autosomal dominant pigmented paravenous chorioretinal atrophy (MIM: 172870) or autosomal recessive Leber congenital amaurosis (MIM: 613835) or retinitis pigmentosa (MIM: 600105).
Invitae RCV001049610 SCV001213668 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825490 SCV002090136 uncertain significance Leber congenital amaurosis 2019-11-11 no assertion criteria provided clinical testing

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