ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser)

dbSNP: rs201432429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334388 SCV001527226 uncertain significance Pontocerebellar hypoplasia type 3 2018-06-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002070184 SCV002343418 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155396 SCV003844217 uncertain significance not specified 2023-02-03 criteria provided, single submitter clinical testing Variant summary: PCLO c.6532C>T (p.Pro2178Ser) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00022 in 248954 control chromosomes (gnomAD), predominantly at a frequency of 0.0034 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.6532C>T in individuals affected with Pontocerebellar Hypoplasia Type 3 and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: one classified the variant as likely benign, and one classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003963225 SCV004780924 likely benign PCLO-related disorder 2022-11-29 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).

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