ClinVar Miner

Submissions for variant NM_001136191.3(KANK2):c.2543C>T (p.Ser848Leu)

gnomAD frequency: 0.00086  dbSNP: rs146639208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927430 SCV002158971 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 848 of the KANK2 protein (p.Ser848Leu). This variant is present in population databases (rs146639208, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with KANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1394568). 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 disruptive. 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 RCV002482740 SCV002776124 uncertain significance Wooly hair-palmoplantar keratoderma syndrome; Nephrotic syndrome 16 2021-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041526 SCV003562032 uncertain significance not specified 2023-12-09 criteria provided, single submitter clinical testing The c.2567C>T (p.S856L) alteration is located in exon 11 (coding exon 11) of the KANK2 gene. This alteration results from a C to T substitution at nucleotide position 2567, causing the serine (S) at amino acid position 856 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001927430 SCV003813910 uncertain significance not provided 2020-12-22 criteria provided, single submitter clinical testing

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