ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.694_718dup (p.Val240fs)

dbSNP: rs1564228101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697052 SCV000825642 pathogenic Nephronophthisis 16 2018-03-22 criteria provided, single submitter clinical testing Loss-of-function variants in ANKS6 are known to be pathogenic (PMID: 23793029, 25599650). This sequence change creates a premature translational stop signal (p.Val240Glyfs*21) in the ANKS6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ANKS6-related disease. For these reasons, this variant has been classified as Pathogenic.

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