ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.803A>G (p.Asn268Ser)

gnomAD frequency: 0.00001  dbSNP: rs200411099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342011 SCV001535912 likely benign Charcot-Marie-Tooth disease dominant intermediate F 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546945 SCV003539482 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.803A>G (p.N268S) alteration is located in exon 9 (coding exon 8) of the GNB4 gene. This alteration results from a A to G substitution at nucleotide position 803, causing the asparagine (N) at amino acid position 268 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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