ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.53G>A (p.Ser18Asn)

dbSNP: rs1280305079
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233272 SCV001405859 uncertain significance CHARGE association 2019-07-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with CHD7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 18 of the CHD7 protein (p.Ser18Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.

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