ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp)

dbSNP: rs141901540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572572 SCV001797239 uncertain significance not provided 2021-01-14 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001572572 SCV002180654 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568465 SCV003572603 uncertain significance Inborn genetic diseases 2021-09-30 criteria provided, single submitter clinical testing The c.7207C>T (p.R2403W) alteration is located in exon 20 (coding exon 19) of the DCHS1 gene. This alteration results from a C to T substitution at nucleotide position 7207, causing the arginine (R) at amino acid position 2403 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003985509 SCV004118452 uncertain significance DCHS1-related disorder 2023-05-22 criteria provided, single submitter clinical testing The DCHS1 c.7207C>T variant is predicted to result in the amino acid substitution p.Arg2403Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.082% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-6646039-G-A). In ClinVar, this variant is interpreted as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/1205797/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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