ClinVar Miner

Submissions for variant NM_017415.3(KLHL3):c.1694C>T (p.Thr565Met)

gnomAD frequency: 0.00004  dbSNP: rs375871642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785139 SCV000923701 uncertain significance Pseudohypoaldosteronism type 2D 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV003546601 SCV004275539 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs375871642, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 565 of the KLHL3 protein (p.Thr565Met). This variant has not been reported in the literature in individuals affected with KLHL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 634612). 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.

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