ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met)

gnomAD frequency: 0.00009  dbSNP: rs150889229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489008 SCV000576491 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing The T900M variant in the DCHS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T900M variant is observed in 9/65120 (0.014%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The T900M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T900M as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000489008 SCV002381719 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333072 SCV004040651 uncertain significance Van Maldergem syndrome 1 2023-02-06 criteria provided, single submitter clinical testing

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