ClinVar Miner

Submissions for variant NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)

gnomAD frequency: 0.00001  dbSNP: rs564185858
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000231295 SCV001443001 pathogenic Cerebral palsy, spastic quadriplegic, 3 2020-06-01 criteria provided, single submitter clinical testing PS3, PM2, PM3, PP1_Moderate
Baylor Genetics RCV000231295 SCV001520238 likely pathogenic Cerebral palsy, spastic quadriplegic, 3 2020-07-09 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Centogene AG - the Rare Disease Company RCV000231295 SCV002059435 pathogenic Cerebral palsy, spastic quadriplegic, 3 2019-04-30 criteria provided, single submitter clinical testing
Genetics Department, Catlab RCV000231295 SCV005419258 likely pathogenic Cerebral palsy, spastic quadriplegic, 3 2024-04-10 criteria provided, single submitter clinical testing The c.1100G>A variant in the ADD3 gene is an extremely rare missense variant in gnomAD 4.1 (AF=8.6e-06) (PM2). Functional studies in cells and Drosophila support a deleterious effect of the variant in the protein function (PS3) and REVEL predicts a deleterious effect (PP3). Moreover, the variant has been found to segregate in 4 affected members of a family (PMID: 23836506) (PP1_strong). With all the available evidence, the variant is classified as likely pathogenic.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000234930 SCV005420840 pathogenic Cerebral palsy 2024-10-04 criteria provided, single submitter research PS3, PM2, PM3, PP1_Moderate
GeneDx RCV005230176 SCV005874620 likely pathogenic not provided 2024-08-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 28899476, 32029431, 36046955, 30369941, 28492530, 37460657, 38570878, 34859687, 27391121, 30109564, 23836506, 28042670)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000234930 SCV000282045 pathogenic Cerebral palsy no assertion criteria provided literature only
OMIM RCV000231295 SCV000291923 pathogenic Cerebral palsy, spastic quadriplegic, 3 2024-02-15 no assertion criteria provided literature only

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