ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5420A>C (p.Asn1807Thr)

dbSNP: rs1001632406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252377 SCV002523485 uncertain significance See cases 2019-04-24 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003094136 SCV003510066 uncertain significance CHARGE syndrome 2022-05-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1807 of the CHD7 protein (p.Asn1807Thr). This variant is not present in population databases (gnomAD 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CHD7-related conditions.

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