ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.1289C>A (p.Pro430Gln)

gnomAD frequency: 0.00002  dbSNP: rs145467227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913073 SCV002169456 uncertain significance Wiskott-Aldrich syndrome 2 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 430 of the WIPF1 protein (p.Pro430Gln). This variant is present in population databases (rs145467227, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with WIPF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1401726). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004970451 SCV005528692 uncertain significance Inborn genetic diseases 2024-09-30 criteria provided, single submitter clinical testing The c.1289C>A (p.P430Q) alteration is located in exon 6 (coding exon 5) of the WIPF1 gene. This alteration results from a C to A substitution at nucleotide position 1289, causing the proline (P) at amino acid position 430 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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