Submissions for variant NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)

gnomAD frequency: 0.00117  dbSNP: rs184556570

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086530	SCV000640956	likely benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000531626	SCV001154152	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	DOK7: BP4, BS2
GeneDx	RCV000531626	SCV001818960	likely benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22661499)
Fulgent Genetics, Fulgent Genetics	RCV002491019	SCV002795372	likely benign	Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3	2021-07-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024008	SCV004861326	uncertain significance	Inborn genetic diseases	2021-08-12	criteria provided, single submitter	clinical testing	The c.1507C>A (p.P503T) alteration is located in exon 7 (coding exon 7) of the DOK7 gene. This alteration results from a C to A substitution at nucleotide position 1507, causing the proline (P) at amino acid position 503 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV000531626	SCV005256643	likely benign	not provided		criteria provided, single submitter	not provided