Submissions for variant NM_000187.4(HGD):c.970dup (p.Val324fs)

dbSNP: rs34214309

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000409682	SCV000487180	likely pathogenic	Alkaptonuria	2016-10-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000409682	SCV002120961	pathogenic	Alkaptonuria	2021-10-21	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371566). This premature translational stop signal has been observed in individual(s) with alkaptonuria (PMID: 25804398). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val324Glyfs*3) 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).
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	RCV000409682	SCV004098956	pathogenic	Alkaptonuria		no assertion criteria provided	research	The variant was originally described in AKU patient in PMID:19862842. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00139).