ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu)

gnomAD frequency: 0.01411  dbSNP: rs362936
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288988 SCV001476465 benign not specified 2023-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001797169 SCV002038661 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499507 SCV002805765 likely benign Autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia 44 2021-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001797169 SCV003244445 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004594266 SCV005086717 likely benign Autosomal recessive spinocerebellar ataxia 13 2023-07-17 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of spinocerebellar ataxia, autosomal recessive 13 (MIM#614831), with 77 homozygotes in gnomAD v2. (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Breakthrough Genomics, Breakthrough Genomics RCV001797169 SCV005227811 likely benign not provided criteria provided, single submitter not provided

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