ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.205del (p.Ser69fs)

dbSNP: rs2538128683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002746254 SCV003017317 pathogenic not provided 2022-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HERC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser69Leufs*19) in the HERC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HERC1 are known to be pathogenic (PMID: 26138117, 26153217, 27108999).

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