ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)

gnomAD frequency: 0.00024  dbSNP: rs369437168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702944 SCV000831821 pathogenic Nephronophthisis 16 2017-09-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg461*) in the ANKS6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs369437168, ExAC 0.002%). This variant has not been reported in the literature in individuals with ANKS6-related disease. Loss-of-function variants in ANKS6 are known to be pathogenic (PMID: 23793029, 25599650). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000702944 SCV005677536 likely pathogenic Nephronophthisis 16 2024-05-16 criteria provided, single submitter clinical testing

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