ClinVar Miner

Submissions for variant NM_001136191.3(KANK2):c.1504G>A (p.Val502Met)

gnomAD frequency: 0.00025  dbSNP: rs147580567
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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 RCV001944158 SCV002209649 uncertain significance not provided 2023-06-10 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1432926). This variant has not been reported in the literature in individuals affected with KANK2-related conditions. This variant is present in population databases (rs147580567, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 502 of the KANK2 protein (p.Val502Met).
Fulgent Genetics, Fulgent Genetics RCV002507623 SCV002816243 uncertain significance Wooly hair-palmoplantar keratoderma syndrome; Nephrotic syndrome 16 2021-09-21 criteria provided, single submitter clinical testing

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