Submissions for variant NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu)

gnomAD frequency: 0.00076  dbSNP: rs145099391

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001329125	SCV001520456	uncertain significance	Van Maldergem syndrome 1	2020-01-03	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV001571744	SCV001796268	uncertain significance	not provided	2024-02-04	criteria provided, single submitter	clinical testing	Observed with another DCHS1 variant on the same allele (in cis) in multiple affected individuals with mitral valve prolapse from the same family, however the other DCHS1 variant was thought to be responsible for the phenotype (PMID: 26258302); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30675029, 24252905, 26258302, 29046692)
Centogene AG - the Rare Disease Company	RCV001329125	SCV002059530	uncertain significance	Van Maldergem syndrome 1	2021-04-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001571744	SCV002485212	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001571744	SCV003834283	uncertain significance	not provided	2022-06-01	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005361535	SCV005912775	uncertain significance	Congenital heart disease	2022-01-20	criteria provided, single submitter	research