ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.960dup (p.Pro321fs)

dbSNP: rs386834241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000001461 SCV001224522 pathogenic Leber congenital amaurosis 3 2019-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPATA7 are known to be pathogenic (PMID: 19268277, 22334370, 23847139, 26047050, 26261414). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 19268277). ClinVar contains an entry for this variant (Variation ID: 1396). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Pro321Thrfs*6) in the SPATA7 gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000001461 SCV000021616 pathogenic Leber congenital amaurosis 3 2011-05-09 no assertion criteria provided literature only
GeneReviews RCV000001461 SCV000086980 not provided Leber congenital amaurosis 3 no assertion provided literature only

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