ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.2062C>T (p.Arg688Trp)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003344579 SCV004058092 uncertain significance Inborn genetic diseases 2023-07-14 criteria provided, single submitter clinical testing The c.2062C>T (p.R688W) alteration is located in exon 4 (coding exon 3) of the DCHS1 gene. This alteration results from a C to T substitution at nucleotide position 2062, causing the arginine (R) at amino acid position 688 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777506 SCV004617485 uncertain significance not provided 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 688 of the DCHS1 protein (p.Arg688Trp). This variant is present in population databases (rs563576751, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with DCHS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2588730). 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 with a negative predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV003777506 SCV005093472 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DCHS1: BP4
GeneDx RCV003777506 SCV005388701 uncertain significance not provided 2024-04-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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