ClinVar Miner

Submissions for variant NM_153485.3(NUP155):c.1204G>A (p.Val402Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology RCV001090184 SCV001244314 uncertain significance Atrial fibrillation, familial, 15 2020-04-11 criteria provided, single submitter clinical testing The c.1027G>A variant is present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency, only in heterozygous state. The variant is also present in our in-house exome database, only in heterozygous state (MAF~0.004). The variant was not reported to OMIM, Human Genome Mutation Database (HGMD) or ClinVar databases in any affected individuals. In-silico pathogenicity prediction programs like PolyPhen-3, MutationTaster2, CADD etc. predicted this variant to be likely deleterious. However there are no documented functional studies to prove this. Due to lack of enough evidence the variant has been classified as uncertain significance.

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