ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.709A>C (p.Asn237His)

gnomAD frequency: 0.00001  dbSNP: rs758131126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229886 SCV001402347 likely benign Charcot-Marie-Tooth disease dominant intermediate F 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002366029 SCV002662594 uncertain significance Inborn genetic diseases 2021-09-24 criteria provided, single submitter clinical testing The p.N237H variant (also known as c.709A>C), located in coding exon 8 of the GNB4 gene, results from an A to C substitution at nucleotide position 709. The asparagine at codon 237 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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