ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.807del (p.Ala270fs)

dbSNP: rs1586249559
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853378 SCV000996249 pathogenic CHARGE association 2019-02-20 criteria provided, single submitter clinical testing This frameshifting variant in exon 2 of 38 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. A frameshift variant at the same amino acid position has been previously reported as a de novo change in an individual with CHARGE syndrome (PMID: 16169932). Additionally, multiple pathogenic variants downstream of the p.Ala270ProfsTer35 variants in CHD7 have been reported in the Human Gene Mutation Database (HGMD). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.807del (p.Ala270ProfsTer35) variant is classified as pathogenic.

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