ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.2320_2321insT (p.Thr774Ilefs)

dbSNP: rs2068825510
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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 RCV001030759 SCV001190089 likely pathogenic Hydatidiform mole, recurrent, 1 2020-03-09 criteria provided, single submitter clinical testing The c.2320_2321insT 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 not reported earlier to OMIM, ClinVar or HGMD databases. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc. predicted this variant as likely deleterious. The variant causes a frameshift that may either result into a truncated protein due to premature stop codon or loss of protein due to non sense mediated decay of the mRNA, however functional assay was not performed performed to prove this. The variant has been classified as likely pathogenic as per ACMG guidelines. The variant was observed in this patient along with a heterozygous missense variant in NLRP7 gene (c.2402T>C).

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