ClinVar Miner

Submissions for variant NM_006268.5(DPF2):c.844A>T (p.Ile282Phe)

gnomAD frequency: 0.00001  dbSNP: rs1854515495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001795571 SCV002034782 uncertain significance Coffin-Siris syndrome 7 2021-08-06 criteria provided, single submitter clinical testing The DPF2 c.886A>T (p.Ile296Phe) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database version 2.1.1 or version 3.1.1 in a region of good sequence coverage, so the variant is presumed to be rare. The p.Ile296Phe variant is located within the C-terminal PHD1 finger domain, which is an important functional domain (Vasileiou et al. 2018). Based on the limited evidence, the p.Ile296Phe variant is classified as a variant of uncertain significance for Coffin-Siris syndrome.
Labcorp Genetics (formerly Invitae), Labcorp RCV003772184 SCV004687740 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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