ClinVar Miner

Submissions for variant NM_001142556.2(HMMR):c.769C>T (p.Gln257Ter)

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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 RCV002465053 SCV002759446 uncertain significance Familial cancer of breast 2022-08-30 criteria provided, single submitter clinical testing The c.769C>T variant is not present in 1000 Genomes, EVS, Indian Exome Database or our in-house exome database. The variant is present in gnomAD at a low frequency. The variant has not been previously reported to ClinVar, HGMD or OMIM databases in affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies.

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