Submissions for variant NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)

gnomAD frequency: 0.00003  dbSNP: rs145366078

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000802652	SCV000942493	likely benign	Charcot-Marie-Tooth disease axonal type 2O	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000991930	SCV001143805	uncertain significance	not provided	2019-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000991930	SCV001822419	likely benign	not provided	2019-04-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386432	SCV002702910	uncertain significance	Inborn genetic diseases	2020-07-27	criteria provided, single submitter	clinical testing	The p.A4551T variant (also known as c.13651G>A), located in coding exon 76 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 13651. The alanine at codon 4551 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000991930	SCV004010329	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	DYNC1H1: BP4, BS2
Service de Génétique Moléculaire, Hôpital Robert Debré	RCV001255800	SCV001432414	likely benign	Intellectual disability, autosomal dominant 13		no assertion criteria provided	clinical testing