ClinVar Miner

Submissions for variant NM_003931.3(WASF1):c.715C>T (p.Pro239Ser)

dbSNP: rs2114451272
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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 (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002254391 SCV002525533 uncertain significance Neurodevelopmental disorder with absent language and variable seizures 2022-04-20 criteria provided, single submitter clinical testing The c.715C>T variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not previously reported to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases, in any affected individuals. Predictions from different in-silico pathogenicity prediction programs like SIFT, PolyPhen-2, CADD, Varsome etc. are contradictory. The variant is located near the exon7-intron7 boundary (2 bp splice distance) of WASF1 gene and predicted to affect the splicing of mRNA, however these predictions were not confirmed by any published functional/transcriptional studies.

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