ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.224A>G (p.Asn75Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144969 SCV003830643 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978776 SCV005555546 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.224A>G (p.N75S) alteration is located in exon 3 (coding exon 3) of the CHRNG gene. This alteration results from a A to G substitution at nucleotide position 224, causing the asparagine (N) at amino acid position 75 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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