ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe)

dbSNP: rs1665065652
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001924808 SCV002155641 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1046 of the CRB1 protein (p.Ser1046Phe). 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.
Ambry Genetics RCV003166916 SCV003870263 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.3137C>T (p.S1046F) alteration is located in exon 9 (coding exon 9) of the CRB1 gene. This alteration results from a C to T substitution at nucleotide position 3137, causing the serine (S) at amino acid position 1046 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003452057 SCV004180126 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452058 SCV004180127 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452056 SCV004180128 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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