Submissions for variant NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)

gnomAD frequency: 0.00024  dbSNP: rs139155910

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000522205	SCV000619587	uncertain significance	not provided	2024-04-02	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000798140	SCV000937740	likely benign	Hyperphosphatasia with intellectual disability syndrome 2	2024-01-22	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000798140	SCV001528340	uncertain significance	Hyperphosphatasia with intellectual disability syndrome 2	2018-03-23	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity	RCV000798140	SCV003808352	uncertain significance	Hyperphosphatasia with intellectual disability syndrome 2	2021-11-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004023583	SCV005005614	likely benign	Inborn genetic diseases	2021-07-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.