ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1048_1060del (p.Gly350fs) (rs1057517943)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413686 SCV000491143 likely pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing The c.1048_1060del13 variant in the SPRED1 gene has been reported previously in individuals with Legius syndrome (Evans et al., 2016; Pasmant et al., 2009). The c.1048_1060del13 variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The deletion causes a frameshift starting with codon Glycine 350, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Gly350MetfsX52. This variant is predicted to cause loss of normal protein function through protein truncation. Specifically, it is predicted that the last 95 correct residues will be lost and replaced by 51 incorrect residues. Therefore, this variant is likely pathogenic.

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