ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) (rs377750405)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959749 SCV001106672 benign not provided 2018-02-07 criteria provided, single submitter clinical testing
OMIM RCV000054548 SCV000083026 pathogenic Nephronophthisis 16 2013-08-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000054548 SCV001142399 likely pathogenic Nephronophthisis 16 2020-01-06 no assertion criteria provided curation NM_173551.3:c.1322A>G in the ANKS6 gene has an allele frequency of 0.006 in South Asian subpopulation in the gnomAD database. The FKTN c.1322A>G (p.Gln441Arg) variant has been detected in a family with polycystic kidney disease in homozygous state (PMID: 23793029). Functional studies revealed that p.Gln441Arg was deleterious for protein function (PMID: 23793029). Pathogenic computational verdict because pathogenic predictions from DANN, EIGEN, FATHMM-MKL, M-CAP, MutationAssessor and MutationTaster. Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PM3; PS3; PP3.

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