ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln)

gnomAD frequency: 0.00001  dbSNP: rs755148348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333363 SCV001525921 uncertain significance Autosomal recessive multiple pterygium syndrome 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004609774 SCV005106369 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.137G>A (p.R46Q) alteration is located in exon 2 (coding exon 2) of the CHRNG gene. This alteration results from a G to A substitution at nucleotide position 137, causing the arginine (R) at amino acid position 46 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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