Submissions for variant NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)

dbSNP: rs777878533

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001074832	SCV001240432	pathogenic	Retinal dystrophy	2019-07-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001389647	SCV001591082	pathogenic	not provided	2025-01-13	criteria provided, single submitter	clinical testing	This variant, c.940_942del, results in the deletion of 1 amino acid(s) of the CNGA3 protein (p.Ile314del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777878533, gnomAD 0.009%). This variant has been observed in individual(s) with achromatopsia (PMID: 11536077, 24676353, 25616768, 28159970, 30682209). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as Ile312del. ClinVar contains an entry for this variant (Variation ID: 635158). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV001389647	SCV002577116	pathogenic	not provided	2022-03-29	criteria provided, single submitter	clinical testing	In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29706639, 11536077, 28159970, 30682209, 24676353, 25616768, 31456290)
Fulgent Genetics, Fulgent Genetics	RCV005029444	SCV005663332	likely pathogenic	Achromatopsia 2	2024-02-26	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV000786011	SCV000924651	likely pathogenic	Achromatopsia	2017-12-13	no assertion criteria provided	research
Sharon lab, Hadassah-Hebrew University Medical Center	RCV000786011	SCV001161010	pathogenic	Achromatopsia	2019-06-23	no assertion criteria provided	research