Submissions for variant NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)

gnomAD frequency: 0.00154  dbSNP: rs139659618

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224189	SCV000280639	likely benign	not provided	2016-04-28	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000597443	SCV000702376	benign	not specified	2016-10-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224189	SCV001044858	likely benign	not provided	2024-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000224189	SCV002002892	uncertain significance	not provided	2020-02-17	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV004658992	SCV005162371	likely benign	Inborn genetic diseases	2024-06-03	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.
PreventionGenetics, part of Exact Sciences	RCV003947732	SCV004776250	likely benign	ARHGAP31-related disorder	2019-03-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).