ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.26dup (p.Ala11fs) (rs758809498)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001009623 SCV001161672 pathogenic Spinocerebellar ataxia, autosomal recessive 13 2020-01-28 criteria provided, single submitter clinical testing A homozygous single base pair duplication in exon 2 of the GRM1 gene that results in the frameshift and premature truncation of the protein 78 amino acids downstream to codon 11 was detected. The observed variant c.26dup (p.Ala11SerfsTer78) has not been reported in the 1000 Genomes and has a minor allele frequency of 0.002% in the ExAC database. The in silico prediction of the variant is damaging by MutationTaster2. The reference region is conserved across primates. In summary, the variant meets our criteria to be classified as pathogenic.

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