ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)

gnomAD frequency: 0.00001  dbSNP: rs193302864
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000034873 SCV002024468 likely pathogenic Cutis laxa, autosomal recessive, type 1B 2020-08-24 criteria provided, single submitter clinical testing
GeneDx RCV003332092 SCV004039877 pathogenic not provided 2023-03-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate a damaging effect via decreased secretion and impaired extracellular assembly (Sasaki et al., 2019); 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: 24838734, 34901216, 22943132, 31125616)
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000034873 SCV005068202 likely pathogenic Cutis laxa, autosomal recessive, type 1B criteria provided, single submitter clinical testing The variant, c.608A>C, p.(Asp203Ala) in EFEMP2 was observed in a homozygous state in the proband. This confirms the diagnosis of cutis laxa, autosomal recessive, type IB in Abdul Hazim.
GeneReviews RCV000032272 SCV000055907 not provided Cutis laxa, autosomal recessive, type 1A no assertion provided literature only
OMIM RCV000034873 SCV000058479 pathogenic Cutis laxa, autosomal recessive, type 1B 2012-09-03 no assertion criteria provided literature only

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