ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3820A>C (p.Asn1274His)

dbSNP: rs1331474623
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003193603 SCV003894339 uncertain significance Inborn genetic diseases 2023-01-18 criteria provided, single submitter clinical testing The c.3820A>C (p.N1274H) alteration is located in exon 16 (coding exon 15) of the CHD7 gene. This alteration results from a A to C substitution at nucleotide position 3820, causing the asparagine (N) at amino acid position 1274 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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