ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu)

gnomAD frequency: 0.00002  dbSNP: rs760387934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687689 SCV000815274 uncertain significance Nephronophthisis 16 2018-01-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ANKS6-related disease. This variant is present in population databases (rs760387934, ExAC 0.02%). This sequence change replaces proline with leucine at codon 702 of the ANKS6 protein (p.Pro702Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000687689 SCV002791773 uncertain significance Nephronophthisis 16 2022-05-12 criteria provided, single submitter clinical testing

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