ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met)

gnomAD frequency: 0.00006  dbSNP: rs571644641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705870 SCV000834887 uncertain significance Immunodeficiency 14 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 397 of the PIK3CD protein (p.Val397Met). This variant is present in population databases (rs571644641, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PIK3CD-related conditions. ClinVar contains an entry for this variant (Variation ID: 581916). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIK3CD protein function. 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.
Blueprint Genetics RCV000788826 SCV000928082 uncertain significance not provided 2018-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534447 SCV003649644 uncertain significance Inborn genetic diseases 2022-09-27 criteria provided, single submitter clinical testing The c.1189G>A (p.V397M) alteration is located in exon 9 (coding exon 7) of the PIK3CD gene. This alteration results from a G to A substitution at nucleotide position 1189, causing the valine (V) at amino acid position 397 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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