ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.2402T>C (p.Leu801Pro)

gnomAD frequency: 0.00001  dbSNP: rs2068817265
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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 RCV001034709 SCV001190090 uncertain significance Hydatidiform mole, recurrent, 1 2020-03-09 criteria provided, single submitter clinical testing The c.2402T>C 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, SIFT, Polyphen-2, MutationTaster2, CADD etc. predicted this variant as likely deleterious, however functional assay was not performed performed to prove this. Due to lack of enough evidence he variant has been classified as uncertain significance as per ACMG guidelines. The variant was observed in this patient along with a heterozygous frameshift variant in NLRP7 gene (c.2320_2321insT).

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