ClinVar Miner

Submissions for variant NM_033310.3(KCNK4):c.1160G>A (p.Arg387Gln)

dbSNP: rs2495704254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004262193 SCV003886107 uncertain significance not specified 2023-02-06 criteria provided, single submitter clinical testing The c.1160G>A (p.R387Q) alteration is located in exon 7 (coding exon 6) of the KCNK4 gene. This alteration results from a G to A substitution at nucleotide position 1160, causing the arginine (R) at amino acid position 387 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005101279 SCV005823528 uncertain significance not provided 2024-06-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 387 of the KCNK4 protein (p.Arg387Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNK4-related conditions. ClinVar contains an entry for this variant (Variation ID: 2472654). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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