ClinVar Miner

Submissions for variant NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)

gnomAD frequency: 0.00859  dbSNP: rs61761068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000041972 SCV001140292 uncertain significance Ataxia with oculomotor apraxia type 3 2019-05-28 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001777146 SCV002014654 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.051, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
OMIM RCV000041972 SCV000065675 pathogenic Ataxia with oculomotor apraxia type 3 2012-02-01 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000041972 SCV001142468 uncertain significance Ataxia with oculomotor apraxia type 3 2020-01-06 no assertion criteria provided curation NM_001142633.2:c.1885C>T in the PIK3R5 gene has an allele frequency of 0.029 in African subpopulation in the gnomAD database. This variant has been detected in a consanguineous family with autosomal recessive ataxias, segregating with phenotypes (PMID: 22065524). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BS1, PP1, PP4.

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