ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs)

dbSNP: rs1554604441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543551 SCV000631270 pathogenic CHARGE association 2017-01-31 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotides in exon 32 of the CHD7 mRNA (c.6841_6842insTA), causing a frameshift at codon 2281. This creates a premature translational stop signal (p.Asp2281Valfs*17) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in CHD7 are known to be pathogenic (PMID: 16400610, 22461308). For these reasons, this variant has been classified as Pathogenic.

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