ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile)

gnomAD frequency: 0.00001  dbSNP: rs1247369056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041751 SCV001205386 likely benign CHARGE association 2023-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553079 SCV003554183 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.7017G>A (p.M2339I) alteration is located in exon 33 (coding exon 32) of the CHD7 gene. This alteration results from a G to A substitution at nucleotide position 7017, causing the methionine (M) at amino acid position 2339 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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