ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.4781A>G (p.Tyr1594Cys)

gnomAD frequency: 0.00002  dbSNP: rs749707126
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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 RCV001872317 SCV002119795 uncertain significance not provided 2022-10-27 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 1594 of the RP1 protein (p.Tyr1594Cys). This variant is present in population databases (rs749707126, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1359667). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; 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.
Dept Of Ophthalmology, Nagoya University RCV003888349 SCV004706745 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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