ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)

gnomAD frequency: 0.00001  dbSNP: rs1254919944
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885011 SCV002163950 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 43 of the CRB1 protein (p.Ser43Pro). This variant is not present in population databases (gnomAD 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 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 RCV002503519 SCV002778572 uncertain significance Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-04-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452081 SCV004178797 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452082 SCV004178798 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452080 SCV004178799 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815736 SCV005069049 uncertain significance Retinal dystrophy 2014-01-01 no assertion criteria provided clinical testing

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