ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.422C>T (p.Ala141Val)

gnomAD frequency: 0.00227  dbSNP: rs116772777
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560832 SCV000656896 likely benign Intellectual disability, autosomal recessive 53 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000560832 SCV001529537 uncertain significance Intellectual disability, autosomal recessive 53 2018-05-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002527925 SCV003754795 likely benign Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003915647 SCV004729731 likely benign PIGG-related condition 2021-04-09 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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