ClinVar Miner

Submissions for variant NM_003835.4(RGS9):c.1637T>C (p.Met546Thr)

dbSNP: rs554468255
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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 RCV001306318 SCV001495686 uncertain significance not provided 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 546 of the RGS9 protein (p.Met546Thr). This variant is present in population databases (rs554468255, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with RGS9-related conditions. ClinVar contains an entry for this variant (Variation ID: 1008906). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
3billion RCV004731124 SCV005328864 likely benign Prolonged electroretinal response suppression 1 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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