ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)

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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 RCV002953339 SCV003273768 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 402 of the CRB1 protein (p.Ser402Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs781359016, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV003269341 SCV003955822 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.1204T>C (p.S402P) alteration is located in exon 6 (coding exon 6) of the CRB1 gene. This alteration results from a T to C substitution at nucleotide position 1204, causing the serine (S) at amino acid position 402 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455617 SCV004178905 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455618 SCV004178907 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455616 SCV004178908 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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