ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu)

gnomAD frequency: 0.00003  dbSNP: rs1019548575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695858 SCV000824380 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 48 of the ADAMTS2 protein (p.Gly48Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002532335 SCV003532768 uncertain significance Inborn genetic diseases 2021-11-29 criteria provided, single submitter clinical testing The c.143G>A (p.G48E) alteration is located in exon 2 (coding exon 2) of the ADAMTS2 gene. This alteration results from a G to A substitution at nucleotide position 143, causing the glycine (G) at amino acid position 48 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000695858 SCV001458939 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-09-16 no assertion criteria provided clinical testing

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