ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.94+2T>C (rs786204787)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000169677 SCV000221214 likely pathogenic Leber congenital amaurosis 3 2013-08-08 criteria provided, single submitter clinical testing The 94+2T>C variant in SPATA7 has not been previously reported. This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. However, this predictive information, in the absence of functional data, is not enough to conclude pathogenicity but does suggest the variant is likely pathogenic.

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