ClinVar Miner

Submissions for variant NM_002645.4(PIK3C2A):c.3386T>C (p.Met1129Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004182420 SCV003682364 uncertain significance not specified 2022-10-26 criteria provided, single submitter clinical testing The c.3386T>C (p.M1129T) alteration is located in exon 20 (coding exon 20) of the PIK3C2A gene. This alteration results from a T to C substitution at nucleotide position 3386, causing the methionine (M) at amino acid position 1129 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003546925 SCV004268076 uncertain significance not provided 2023-05-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1129 of the PIK3C2A protein (p.Met1129Thr). This variant is present in population databases (rs534820406, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PIK3C2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 2347774). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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