Submissions for variant NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer)

dbSNP: rs567890014

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000986169	SCV001135075	pathogenic	not provided	2019-05-28	criteria provided, single submitter	clinical testing
DBGen Ocular Genomics	RCV001593160	SCV001816003	pathogenic	Leber congenital amaurosis 3	2021-06-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001593160	SCV002970461	pathogenic	Leber congenital amaurosis 3	2022-09-01	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 801398). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 32865313). This variant is present in population databases (rs567890014, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser234*) in the SPATA7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPATA7 are known to be pathogenic (PMID: 19268277, 22334370, 23847139, 26047050, 26261414).
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	RCV003324536	SCV004030322	pathogenic	Leber congenital amaurosis	2023-07-24	criteria provided, single submitter	research	Clinical significance based on ACMG v2.0