ClinVar Miner

Submissions for variant NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)

gnomAD frequency: 0.00011  dbSNP: rs202073531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002307494 SCV002601359 likely pathogenic not provided 2022-12-20 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: a knock in mouse model with a homozygous variant homologous to R111C demonstrated incisors and molars with a thin layer of aplastic enamel with many ectopic mineralized nodules (Liang et al., 2022); 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, 27843125, 36183038)
Fulgent Genetics, Fulgent Genetics RCV000415543 SCV002803771 likely pathogenic Amelogenesis imperfecta, type 1J 2022-03-16 criteria provided, single submitter clinical testing
OMIM RCV000415543 SCV000493949 pathogenic Amelogenesis imperfecta, type 1J 2019-08-15 no assertion criteria provided literature only

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