ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys)

gnomAD frequency: 0.00024  dbSNP: rs112817798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288626 SCV001475887 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Baylor Genetics RCV001333077 SCV001525562 uncertain significance Autosomal recessive spinocerebellar ataxia 13 2020-02-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001288626 SCV003253033 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 358 of the GRM1 protein (p.Arg358Lys). This variant is present in population databases (rs112817798, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with GRM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 994892). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Breakthrough Genomics, Breakthrough Genomics RCV001288626 SCV005189278 uncertain significance not provided criteria provided, single submitter not provided

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