ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.476C>T (p.Pro159Leu)

gnomAD frequency: 0.00004  dbSNP: rs1201043974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206254 SCV001377552 uncertain significance CHARGE association 2019-05-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C25"). 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 proline with leucine at codon 159 of the CHD7 protein (p.Pro159Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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