ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln)

gnomAD frequency: 0.00001  dbSNP: rs551509351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001963634 SCV002252797 uncertain significance not provided 2021-06-13 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KCNQ4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces arginine with glutamine at codon 401 of the KCNQ4 protein (p.Arg401Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine.
Ambry Genetics RCV002569229 SCV003695838 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.1202G>A (p.R401Q) alteration is located in exon 9 (coding exon 9) of the KCNQ4 gene. This alteration results from a G to A substitution at nucleotide position 1202, causing the arginine (R) at amino acid position 401 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003446975 SCV004173665 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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