ClinVar Miner

Submissions for variant NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln)

gnomAD frequency: 0.00001  dbSNP: rs769709112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001248852 SCV002099097 uncertain significance Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 2021-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001876295 SCV002113474 uncertain significance not provided 2022-06-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 972737). This missense change has been observed in individual(s) with GRM7-related leukodystrophy (PMID: 32286009). This variant is present in population databases (rs769709112, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 658 of the GRM7 protein (p.Arg658Gln). 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 disruptive. 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. This variant disrupts the p.Arg658 amino acid residue in GRM7. Other variant(s) that disrupt this residue have been observed in individuals with GRM7-related conditions (PMID: 27435318), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Breakthrough Genomics, Breakthrough Genomics RCV001876295 SCV005187494 uncertain significance not provided criteria provided, single submitter not provided
OMIM RCV001248852 SCV001422474 pathogenic Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 2023-09-11 no assertion criteria provided literature only

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