Submissions for variant NM_032634.4(PIGO):c.461C>A (p.Ala154Asp)

gnomAD frequency: 0.00277  dbSNP: rs142562923

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253196	SCV000314998	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085975	SCV000479882	likely benign	Hyperphosphatasia with intellectual disability syndrome 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000253196	SCV000514111	benign	not specified	2017-11-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514062	SCV000610855	likely benign	not provided	2017-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV001085975	SCV000652705	benign	Hyperphosphatasia with intellectual disability syndrome 2	2024-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514062	SCV004157704	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	PIGO: BS1, BS2