ClinVar Miner

Submissions for variant NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter)

dbSNP: rs757546009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002472389 SCV002769789 likely pathogenic Premature ovarian failure 10 2022-12-15 criteria provided, single submitter clinical testing The c.1033C>T variant is not present in publicly available population databases like 1000 Genomes, EVS, Indian Exome Database or our in-house exome database. The variant is present in ExAC and gnomAD at low frequencies. This variant has neither been published nor reported to clinical databases like Clinvar, Human Genome Mutation Database (HGMD) or OMIM in any affected individuals. In silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc predicted the variant to be likely deleterious. This variant creates a premature translational stop signal at the 345th amino acid position of the transcript, which may either result in translation of a truncated protein or cause nonsense-mediated decay of the mRNA.
Revvity Omics, Revvity RCV002472389 SCV004236323 uncertain significance Premature ovarian failure 10 2023-05-22 criteria provided, single submitter clinical testing

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