ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu)

gnomAD frequency: 0.00001  dbSNP: rs765500601
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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 RCV001373232 SCV001569937 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 347 of the CRB1 protein (p.Pro347Leu). This variant is present in population databases (rs765500601, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063399). 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 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. RCV001831324 SCV002090127 uncertain significance Leber congenital amaurosis 2020-11-05 no assertion criteria provided clinical testing

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