ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)

dbSNP: rs1553260314
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513138 SCV000608504 uncertain significance not provided 2021-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001352570 SCV001547131 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-07-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 444188). This missense change has been observed in individual(s) with clinical features of CRB1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 476 of the CRB1 protein (p.Thr476Ala). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CRB1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002481648 SCV002792931 uncertain significance Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-07-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449457 SCV004179913 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449458 SCV004179915 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449456 SCV004179916 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829454 SCV002090138 uncertain significance Leber congenital amaurosis 2021-07-29 no assertion criteria provided clinical testing

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