Submissions for variant NM_001298.3(CNGA3):c.-37-1G>C

dbSNP: rs1553447991

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV000592774	SCV000700216	likely pathogenic	Achromatopsia	2018-03-20	criteria provided, single submitter	research
Invitae	RCV001700230	SCV002120383	uncertain significance	not provided	2021-10-12	criteria provided, single submitter	clinical testing	This sequence change falls in intron 1 of the CNGA3 gene. It does not directly change the encoded amino acid sequence of the CNGA3 protein. RNA analysis indicates that this variant induces altered splicing and is likely to result in the loss of the initiator methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with macular dystrophy (PMID: 30418171). ClinVar contains an entry for this variant (Variation ID: 503559). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of part of exon 2, and is expected to result in the loss of the initiator methionine (PMID: 30418171). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Genetics, Academic Medical Center	RCV001700230	SCV001925685	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700230	SCV001953324	pathogenic	not provided		no assertion criteria provided	clinical testing