ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.9434G>A (p.Gly3145Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223474 SCV003918913 uncertain significance Van Maldergem syndrome 1 2023-04-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003779799 SCV004634326 uncertain significance not provided 2023-04-28 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 DCHS1 protein function. This variant has not been reported in the literature in individuals affected with DCHS1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 3145 of the DCHS1 protein (p.Gly3145Asp).

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