ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3547A>C (p.Lys1183Gln)

dbSNP: rs1804452117
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270897 SCV001451678 likely pathogenic CHD7-related disorders 2019-02-11 criteria provided, single submitter clinical testing The CHD7 c.3547A>C (p.Lys1183Gln) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. Based on the variant's identification in a de novo state and its rarity, the p.Lys1183Gln variant is classified as a likely pathogenic for CHD7-related disorders.

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