ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8320G>A (p.Gly2774Ser)

gnomAD frequency: 0.00001  dbSNP: rs1437179253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002583261 SCV002939064 benign CHARGE syndrome 2022-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965913 SCV005554598 uncertain significance Inborn genetic diseases 2024-10-20 criteria provided, single submitter clinical testing The c.8320G>A (p.G2774S) alteration is located in exon 38 (coding exon 37) of the CHD7 gene. This alteration results from a G to A substitution at nucleotide position 8320, causing the glycine (G) at amino acid position 2774 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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