ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.377-10A>G (rs376134678)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041242 SCV000064933 likely benign not specified 2013-05-23 criteria provided, single submitter clinical testing 377-10A>G in intron 3 of SPRED1: This variant has been identified by our labora tory in a proband and an unaffected parent. This variant is located in the 3' sp lice acceptor region but does not affect the invariant -1 and -2 positions. In a ddition, computational tools do not predict altered splicing. This variant has b een identified in 0.05% (2/4392) of African American chromosomes from a large po pulation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS /). In addition, the adenine nucleotide is not conserved across evolutionary dis tinct species at position 377-10, and several mammals have a guanine at this pos ition. Therefore, the 377-10A>G variant is likely to be benign.
Invitae RCV001078831 SCV000645823 likely benign Legius syndrome 2020-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000681027 SCV000808478 likely benign not provided 2018-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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