ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)

gnomAD frequency: 0.00051  dbSNP: rs138276021
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238882 SCV000296993 likely benign not specified 2015-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000911281 SCV001056343 benign Wiskott-Aldrich syndrome 2 2024-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518507 SCV003589013 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.208G>A (p.G70S) alteration is located in exon 4 (coding exon 3) of the WIPF1 gene. This alteration results from a G to A substitution at nucleotide position 208, causing the glycine (G) at amino acid position 70 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004772885 SCV005384297 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004757178 SCV005352542 likely benign WIPF1-related disorder 2024-09-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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