ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu)

gnomAD frequency: 0.00221  dbSNP: rs149879954
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002143861 SCV002467522 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003081027 SCV003749695 likely benign Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155468 SCV003844206 uncertain significance not specified 2023-02-03 criteria provided, single submitter clinical testing Variant summary: PCLO c.10767C>G (p.Asp3589Glu) results in a 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 0.00054 in 248994 control chromosomes (gnomAD), predominantly at a frequency of 0.0065 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.10767C>G in individuals affected with Pontocerebellar Hypoplasia Type 3 and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003923786 SCV004738157 likely benign PCLO-related disorder 2019-11-08 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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