ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)

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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 RCV002786470 SCV003035336 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 541 of the CRB1 protein (p.Tyr541Cys). This variant is present in population databases (rs757083987, gnomAD 0.006%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV003274034 SCV003953548 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.1622A>G (p.Y541C) alteration is located in exon 6 (coding exon 6) of the CRB1 gene. This alteration results from a A to G substitution at nucleotide position 1622, causing the tyrosine (Y) at amino acid position 541 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455575 SCV004179946 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455576 SCV004179947 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455574 SCV004179949 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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