ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.1058dup (p.Ser354fs)

dbSNP: rs878853385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383050 SCV001582068 pathogenic Leber congenital amaurosis 3 2022-07-21 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: 236497). This premature translational stop signal has been observed in individual(s) with inherited retinal disease (PMID: 27208204). This variant is present in population databases (rs745422364, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ser354Phefs*4) 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).
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225504 SCV000282607 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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