ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)

dbSNP: rs886063033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367545 SCV000474380 uncertain significance CHARGE association 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275238 SCV000474381 uncertain significance Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV003314590 SCV004014136 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000367545 SCV004300384 uncertain significance CHARGE association 2023-07-31 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHD7 protein function. ClinVar contains an entry for this variant (Variation ID: 363444). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 298 of the CHD7 protein (p.Thr298Ala).

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