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
Labcorp Genetics (formerly Invitae), Labcorp RCV000697052 SCV000825642 pathogenic Nephronophthisis 16 2018-03-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ANKS6 are known to be pathogenic (PMID: 23793029, 25599650). This variant has not been reported in the literature in individuals with ANKS6-related disease. This variant is not present in population databases (ExAC no frequency). 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.

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