ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser)

gnomAD frequency: 0.00001  dbSNP: rs1224277360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225476 SCV001397758 uncertain significance CHARGE association 2023-06-15 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 953217). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 900 of the CHD7 protein (p.Pro900Ser).

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