Submissions for variant NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)

gnomAD frequency: 0.00067  dbSNP: rs200764366

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084783	SCV000285830	likely benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2024-12-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000726192	SCV000329212	uncertain significance	not provided	2024-12-11	criteria provided, single submitter	clinical testing	Reported in an individual in published literature; however, this individual was also noted to have additional variants in another gene which may explain the phenotype (PMID: 28392475); Also reported in an individual with anophthalmia, microphthalmia, or coloboma (PMID: 26130484); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28392475, 36319078, 26130484)
Eurofins Ntd Llc (ga)	RCV000726192	SCV000342757	uncertain significance	not provided	2017-06-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765757	SCV000897145	uncertain significance	COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9	2018-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001150183	SCV001311196	uncertain significance	CC2D2A-related disorder	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001150184	SCV001311197	uncertain significance	Meckel syndrome, type 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001150185	SCV001311198	uncertain significance	Joubert syndrome 9	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences	RCV001150183	SCV004745419	likely benign	CC2D2A-related disorder	2022-02-07	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).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004816441	SCV005069555	uncertain significance	Optic atrophy	2023-01-01	no assertion criteria provided	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004816440	SCV005073454	uncertain significance	Retinal dystrophy	2023-01-01	no assertion criteria provided	clinical testing