ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.541C>G (p.Leu181Val)

gnomAD frequency: 0.00001  dbSNP: rs772342696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375914 SCV000403692 uncertain significance Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000375914 SCV000952751 uncertain significance Progressive myoclonic epilepsy 2022-08-23 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 323826). This variant has not been reported in the literature in individuals affected with GOSR2-related conditions. This variant is present in population databases (rs772342696, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 181 of the GOSR2 protein (p.Leu181Val).
GeneDx RCV001575029 SCV001801939 uncertain significance not provided 2019-04-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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