ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) (rs1602099961)

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Total submissions: 2
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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 RCV000856825 SCV000999207 likely pathogenic Allan-Herndon-Dudley syndrome 2019-08-29 criteria provided, single submitter clinical testing The c.407dupA variant is not present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is also not present in our in-house exome database. In-silico pathogenicity prediction programs like Mutation Taster2, CADD, InterVar etc. predicted this variant as likely disease causing. A frame shift variant with a single base insertion (G) in the same position was earlier reported in Human Genome Mutation Database (CI112393) [Filho et al. Arq Bras Endocrinol Metabol. 2011]. As per ACMG guidelines the variant has been classified as likely pathogenic.
Mendelics RCV000856825 SCV001141921 likely pathogenic Allan-Herndon-Dudley syndrome 2019-05-28 criteria provided, single submitter clinical testing

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