ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003448567 SCV004176056 uncertain significance CHARGE syndrome 2023-06-22 criteria provided, single submitter clinical testing The c.7465C>A variant in CHD7 has not previously been reported in the literature and the variant is observed in 2 alleles (~0.0003% minor allele frequency with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.7465C>A variant in CHD7 is located in exon 34 of this 38-exon gene and predicted to replace an evolutionarily conserved leucine amino acid with isoleucine at position 2489 of the encoded protein. In silico predictions are not in favor of damaging effect for p.(Leu2489Ile) [(CADD v1.6 =22.2 value, REVEL = 0.452)]; however, there are no functional studies to support or refute these predictions. Based on available evidence this variant in c.7465C>A p.(Leu2489Ile) variant identified in CHD7 is classified as a Variant of Uncertain Significance.

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