Submissions for variant NM_000036.3(AMPD1):c.1224+8G>A

gnomAD frequency: 0.01045  dbSNP: rs140176911

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000077970	SCV000109799	benign	not specified	2013-11-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521547	SCV001730908	benign	Muscle AMP deaminase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000676654	SCV001835289	benign	not provided	2021-06-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676654	SCV005280453	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676654	SCV000802447	benign	not provided	2017-10-25	no assertion criteria provided	clinical testing
Clinical Genomics Laboratory, Stanford Medicine	RCV001521547	SCV004100861	uncertain significance	Muscle AMP deaminase deficiency	2021-01-06	no assertion criteria provided	clinical testing	The c.1323+8G>A variant in the AMPD1 gene has not been previously reported in association with disease. The highest allele frequency of this variant was identified in the Latino/Admixed American population at 4,411/35,438 chromosomes (12.45%) by the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The c.1323+8G>A variant occurs in the 5’ splice site and computational tools do not predict an impact to splicing. However, the accuracy of these computational tools is limited. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the c.1323+8G>A variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: BP4]