ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002802951 SCV003587555 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.485G>A (p.G162E) alteration is located in exon 3 (coding exon 3) of the KCNQ4 gene. This alteration results from a G to A substitution at nucleotide position 485, causing the glycine (G) at amino acid position 162 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003410173 SCV004127873 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing KCNQ4: PM2, PP2, PP3
Genome-Nilou Lab RCV003445218 SCV004173131 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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