ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile)

gnomAD frequency: 0.00005  dbSNP: rs750572947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494336 SCV000582310 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing The V408I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 8/14702 (0.054%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). V408I is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001037345 SCV001200755 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263702 SCV002542858 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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