Submissions for variant NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)

gnomAD frequency: 0.00001  dbSNP: rs1424516740

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV001582411	SCV001994806	pathogenic	Neurodevelopmental disorder with hypotonia and dysmorphic facies	2021-10-28	criteria provided, single submitter	clinical testing
3billion, Medical Genetics	RCV001582411	SCV002058664	pathogenic	Neurodevelopmental disorder with hypotonia and dysmorphic facies	2022-01-03	criteria provided, single submitter	clinical testing	The variant has been observed in at least two similarly affected unrelated individuals (PMID: 34183358, PS4_M). The variant has been previously reported as de novo in a similarly affected individual (PMID: 34183358, PS2_S). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.639, PP3_P). A missense variant is a common mechanism associated with Neurodevelopmental disorder with hypotonia and dysmorphic facies (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000032, PM2_M).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	RCV001582411	SCV002574827	likely pathogenic	Neurodevelopmental disorder with hypotonia and dysmorphic facies	2022-09-22	criteria provided, single submitter	clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV001582411	SCV004801373	likely pathogenic	Neurodevelopmental disorder with hypotonia and dysmorphic facies	2024-03-14	criteria provided, single submitter	research
OMIM	RCV001582411	SCV001821514	pathogenic	Neurodevelopmental disorder with hypotonia and dysmorphic facies	2022-04-25	no assertion criteria provided	literature only