ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.2844dup (p.Gln949fs)

dbSNP: rs1553274382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480565 SCV000572867 pathogenic not provided 2017-01-25 criteria provided, single submitter clinical testing The c.2844dupA variant in the RAB3GAP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2844dupA variant causes a frameshift starting with codon Glutamine 949, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Gln949ThrfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2844dupA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2844dupA as a pathogenic variant.

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