ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.6601C>T (p.Leu2201Phe)

gnomAD frequency: 0.00001  dbSNP: rs1435738912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002991822 SCV003312802 likely benign not provided 2022-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536530 SCV004121037 uncertain significance HIVEP2-related disorder 2022-09-23 criteria provided, single submitter clinical testing The HIVEP2 c.6601C>T variant is predicted to result in the amino acid substitution p.Leu2201Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-143074984-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002991822 SCV005873877 uncertain significance not provided 2024-08-21 criteria provided, single submitter clinical testing PM2, BP4, PP2

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