ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.4546G>A (p.Val1516Ile)

dbSNP: rs138108985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244215 SCV002512594 uncertain significance PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2021-08-17 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting
Revvity Omics, Revvity RCV002244215 SCV003812842 uncertain significance PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2019-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734480 SCV005357613 uncertain significance PHIP-related disorder 2024-06-03 no assertion criteria provided clinical testing The PHIP c.4546G>A variant is predicted to result in the amino acid substitution p.Val1516Ile. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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