ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly)

gnomAD frequency: 0.00038  dbSNP: rs145373149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500117 SCV001704899 likely benign not provided 2024-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001500117 SCV001994567 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002563329 SCV003696491 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.5543C>G (p.A1848G) alteration is located in exon 14 (coding exon 13) of the DCHS1 gene. This alteration results from a C to G substitution at nucleotide position 5543, causing the alanine (A) at amino acid position 1848 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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