ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3237_3238insTAC (p.Ala1079_Ile1080insTyr)

dbSNP: rs1804153900
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299036 SCV001488112 uncertain significance CHARGE syndrome 2020-03-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) affected with clinical features of CHARGE syndrome (Invitae). This variant, c.3237_3238insTAC, results in the insertion of 1 amino acid(s) to the CHD7 protein (p.Ala1079_Ile1080insTyr), but otherwise preserves the integrity of the reading frame.

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