Submissions for variant NM_015378.4(VPS13D):c.5334T>A (p.Ser1778Arg)

gnomAD frequency: 0.00133  dbSNP: rs144311414

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001312065	SCV001502500	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	VPS13D: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV001312065	SCV002428241	likely benign	not provided	2024-10-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002543589	SCV003737992	likely benign	Inborn genetic diseases	2021-08-10	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.
Genome-Nilou Lab	RCV003346452	SCV004049316	likely benign	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001312065	SCV005259910	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003918850	SCV004728213	likely benign	VPS13D-related disorder	2019-03-25	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).