ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.3424A>G (p.Met1142Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology RCV001030760 SCV001190107 uncertain significance Stromme syndrome 2019-12-18 criteria provided, single submitter clinical testing The c.3424A>G variant is not present in publicly available databases like 1000 Genomes and Exome Variant Server (EVS) however present in Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency (<0.00001), only in heterozygous state. The variant is present in our in-house exome database in heterozygous state (MAF<0.001). The variant was not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals. Predictions from different In-silico pathogenicity prediction programs are contradictory. Due to lack of enough evidence the variant has been classified as uncertain significance as per ACMG guidelines.

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