ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)

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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 RCV003320276 SCV003802745 uncertain significance Myosin storage myopathy 2023-02-02 criteria provided, single submitter clinical testing The c.5173_5175del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in the literature nor reported to clinical databases like ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. The variant is not located in a repetitive region and causes in-frame deletion that results in deletion of a single amino acid. The variant is located in a mutational hotspot region.

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