ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1726G>A (p.Val576Met)

gnomAD frequency: 0.00007  dbSNP: rs201008674
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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 RCV001235622 SCV001408315 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 576 of the RP1 protein (p.Val576Met). This variant is present in population databases (rs201008674, 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: 961860). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine 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.
MGZ Medical Genetics Center RCV002290652 SCV002581296 uncertain significance Retinitis pigmentosa 1 2022-06-20 criteria provided, single submitter clinical testing

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