ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln)

gnomAD frequency: 0.00026  dbSNP: rs374078257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728415 SCV000855988 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000728415 SCV001769444 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002533094 SCV003736158 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.1259G>A (p.R420Q) 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 1259, causing the arginine (R) at amino acid position 420 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003446403 SCV004173698 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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