ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8544T>A (p.Asn2848Lys)

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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 RCV004607778 SCV005106942 uncertain significance Inborn genetic diseases 2024-04-29 criteria provided, single submitter clinical testing The c.8544T>A (p.N2848K) alteration is located in exon 38 (coding exon 37) of the CHD7 gene. This alteration results from a T to A substitution at nucleotide position 8544, causing the asparagine (N) at amino acid position 2848 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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