ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr)

dbSNP: rs1571555801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315672 SCV001506259 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 988 of the CRB1 protein (p.Ile988Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. 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.
Natera, Inc. RCV001835564 SCV002090196 uncertain significance Leber congenital amaurosis 2021-05-26 no assertion criteria provided clinical testing

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