ClinVar Miner

Submissions for variant NM_003978.4(PSTPIP1):c.517_518delAG (p.Gln174Glufs) (rs878855322)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000231956 SCV000291951 likely pathogenic not provided 2014-03-27 criteria provided, single submitter clinical testing The c.517_518delAG variant in the PSTPIP1 gene causes a frameshift starting with codon Glutamine 174, changes this amino acid to a Glutamic acid residue, and creates a premature Stop codon at position 30 of the new reading frame, denoted p.Gln174GlufsX30. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, to date, only missense mutations have been reported in the PSTPIP1 gene. Therefore, although this variant is a strong candidate for a pathogenic mutation, the possibility that it is a benign variant cannot be excluded.

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