ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer)

dbSNP: rs587777025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000054551 SCV002784760 pathogenic Nephronophthisis 16 2021-09-08 criteria provided, single submitter clinical testing
Invitae RCV000054551 SCV004296037 pathogenic Nephronophthisis 16 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr790*) in the ANKS6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANKS6 are known to be pathogenic (PMID: 23793029, 25599650). This variant is present in population databases (rs587777025, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 23793029). ClinVar contains an entry for this variant (Variation ID: 64358). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000054551 SCV000083029 pathogenic Nephronophthisis 16 2013-08-01 no assertion criteria provided literature only

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