ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1816G>A (p.Asp606Asn)

gnomAD frequency: 0.00033  dbSNP: rs138399615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497685 SCV000590087 uncertain significance not provided 2024-12-14 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001834607 SCV002112154 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 606 of the ADAMTS2 protein (p.Asp606Asn). This variant is present in population databases (rs138399615, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 432369). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine 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 RCV004023333 SCV004849732 uncertain significance Inborn genetic diseases 2024-06-05 criteria provided, single submitter clinical testing The c.1816G>A (p.D606N) alteration is located in exon 12 (coding exon 12) of the ADAMTS2 gene. This alteration results from a G to A substitution at nucleotide position 1816, causing the aspartic acid (D) at amino acid position 606 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001834607 SCV002081946 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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