ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter)

dbSNP: rs797045467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192854 SCV000247023 pathogenic CHARGE association 2015-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345689 SCV002645526 pathogenic Inborn genetic diseases 2017-07-06 criteria provided, single submitter clinical testing The p.Q1675* pathogenic mutation (also known as c.5023C>T), located in coding exon 21 of the CHD7 gene, results from a C to T substitution at nucleotide position 5023. This changes the amino acid from a glutamine to a stop codon within coding exon 21. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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