ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.847G>A (p.Val283Ile)

gnomAD frequency: 0.00005  dbSNP: rs748439897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527309 SCV000654426 uncertain significance Nephronophthisis 16 2022-05-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ANKS6-related conditions. 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. 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 isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 474455). This variant is present in population databases (rs748439897, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 283 of the ANKS6 protein (p.Val283Ile).
Fulgent Genetics, Fulgent Genetics RCV000527309 SCV002784672 uncertain significance Nephronophthisis 16 2021-09-25 criteria provided, single submitter clinical testing

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