Submissions for variant NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg)

dbSNP: rs368294870

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150879	SCV000198448	uncertain significance	not specified	2014-04-12	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Ser423Arg varia nt in KCNQ4 has not been previously reported in individuals with hearing loss an d was absent from large population studies. Computational prediction tools and conservation analyses suggest this variant may not impact the protein, though th is information is not predictive enough to rule out pathogenicity. In summary, t he clinical significance of this variant cannot be determined with certainty; ho wever based upon the computational data, we would lean towards a more likely ben ign role.
GeneDx	RCV003325463	SCV004031998	uncertain significance	not provided	2023-03-03	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV003445562	SCV004173720	uncertain significance	Autosomal dominant nonsyndromic hearing loss 2A	2023-04-11	criteria provided, single submitter	clinical testing