ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu)

gnomAD frequency: 0.00002  dbSNP: rs1016512710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755050 SCV001995870 uncertain significance not provided 2019-09-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002540447 SCV003711079 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.686C>T (p.S229L) alteration is located in exon 4 (coding exon 4) of the KCNQ4 gene. This alteration results from a C to T substitution at nucleotide position 686, causing the serine (S) at amino acid position 229 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003446905 SCV004173175 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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