ClinVar Miner

Submissions for variant NM_001136191.3(KANK2):c.1369C>T (p.Pro457Ser)

gnomAD frequency: 0.00001  dbSNP: rs376385754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876674 SCV002118617 uncertain significance not provided 2021-10-09 criteria provided, single submitter clinical testing 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with KANK2-related conditions. This variant is present in population databases (rs376385754, ExAC 0.02%). This sequence change replaces proline with serine at codon 457 of the KANK2 protein (p.Pro457Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
Fulgent Genetics, Fulgent Genetics RCV002482470 SCV002793745 uncertain significance Wooly hair-palmoplantar keratoderma syndrome; Nephrotic syndrome 16 2021-08-11 criteria provided, single submitter clinical testing

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