ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.1098C>A (p.Cys366Ter)

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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 RCV004819060 SCV005439125 likely pathogenic Hypoparathyroidism, familial isolated, 2 2024-11-20 criteria provided, single submitter clinical testing A heterozygous missense variant in exon 5 of the GCM2 gene that results in a stop codon and premature truncation of the protein at 366 was observed. The observed variant c.1098C>A (p.Cys366*) has not been reported in the 1000 genomes and has a MAF of 0.0001% in the gnomAD databases. The in silico prediction of the variant are damaging by MutationTaster2 and DANN. In summary, the variant meets our criteria to be classified as likely pathogenic.

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