Submissions for variant NM_000187.4(HGD):c.175del (p.Ser59fs)

dbSNP: rs397515517

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000003321	SCV000485146	pathogenic	Alkaptonuria	2016-03-09	criteria provided, single submitter	clinical testing
Invitae	RCV000003321	SCV001226002	pathogenic	Alkaptonuria	2023-10-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser59Alafs*52) in the HGD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HGD are known to be pathogenic (PMID: 12501223, 19862842). This variant is present in population databases (rs587776556, gnomAD 0.08%). This premature translational stop signal has been observed in individual(s) with alkaptonuria (PMID: 10594001, 12872836, 18945288, 19862842, 25681086). It has also been observed to segregate with disease in related individuals. This variant is also known as p.R58fs. ClinVar contains an entry for this variant (Variation ID: 3171). For these reasons, this variant has been classified as Pathogenic.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV001169911	SCV001251859	pathogenic	not provided	2020-05-03	criteria provided, single submitter	clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV000003321	SCV004030498	pathogenic	Alkaptonuria		criteria provided, single submitter	clinical testing
OMIM	RCV000003321	SCV000023479	pathogenic	Alkaptonuria	2003-01-01	no assertion criteria provided	literature only
GeneReviews	RCV000003321	SCV000086742	not provided	Alkaptonuria		no assertion provided	literature only	Frequent frameshift variant
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	RCV000003321	SCV004098950	pathogenic	Alkaptonuria		no assertion criteria provided	research	The variant was originally described in AKU patient in PMID:10594001. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00013).