Submissions for variant NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del)

dbSNP: rs769437554

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000479297	SCV000568670	likely pathogenic	not provided	2016-09-06	criteria provided, single submitter	clinical testing	The c.3143_3145delTCT likely pathogenic variant has been reported previously in patients with PXE (Miksch et al., 2005, Chassaing et al., 2005). It was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The c.3143_3145delTCT in-frame deletion results in the loss of a single Phenylalanine residue, denoted p.Phe1048del. This deletion on occurs at a position that is conserved across species and is found in the transmembrane type1-2 domain of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Fulgent Genetics, Fulgent Genetics	RCV005018801	SCV005638858	uncertain significance	Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	2024-03-22	criteria provided, single submitter	clinical testing
PXE International	RCV000499108	SCV000589138	uncertain significance	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research