ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.1297G>A (p.Ala433Thr)

gnomAD frequency: 0.00180  dbSNP: rs201344475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001312125 SCV001502579 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing PCLO: BP4, BS2
Baylor Genetics RCV001329544 SCV001521005 uncertain significance Pontocerebellar hypoplasia type 3 2019-07-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001312125 SCV002461563 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928838 SCV004738049 likely benign PCLO-related disorder 2022-07-20 criteria provided, single submitter 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994262 SCV004813304 uncertain significance not specified 2024-02-02 criteria provided, single submitter clinical testing Variant summary: PCLO c.1297G>A (p.Ala433Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00034 in 1613176 control chromosomes, predominantly at a frequency of 0.0059 within the African or African-American subpopulation in the gnomAD database, including 1 homozygotes. To our knowledge, no occurrence of c.1297G>A in individuals affected with Pontocerebellar Hypoplasia Type 3 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1013552). Based on the evidence outlined above, the variant was classified as uncertain significance.

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