ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs)

dbSNP: rs1586440620
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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 RCV000856670 SCV000998942 likely pathogenic CHARGE syndrome 2019-11-08 criteria provided, single submitter clinical testing The deletion/insertion variant causes frameshift at 1835 amino acid position creating a premature stop codon at 1838 altered amino acid sequence that either may cause a truncated protein or nonsense mediated decay of the mRNA. The variation also may affect the splicing as predicted by in-silico Human Splicing Finder version 3.1 program. The 5508delinsT 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. The variant was also not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals.In-silico pathogenicity prediction programs like Mutation Taster2, CADD etc. predicted this variant as likely disease causing.

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