Submissions for variant NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs)

dbSNP: rs72664220

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001857046	SCV002240052	pathogenic	not provided	2024-12-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp1259Leufs*19) in the ABCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC6 are known to be pathogenic (PMID: 11536079, 17617515). This variant is present in population databases (rs72664221, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 16086317, 17617515). This variant is also known as c.3769_3770insC (p.L1259fsX1277). ClinVar contains an entry for this variant (Variation ID: 433330). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002496928	SCV002810378	pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	2021-07-10	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000499289	SCV004810131	pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	2024-04-04	criteria provided, single submitter	clinical testing
PXE International	RCV000499289	SCV000589076	likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-02	no assertion criteria provided	research