ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu)

gnomAD frequency: 0.00003  dbSNP: rs778184902
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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 RCV000815667 SCV000956130 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1041 of the ADAMTS2 protein (p.Val1041Leu). This variant is present in population databases (rs778184902, gnomAD 0.002%). 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: 658780). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine 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 RCV004028862 SCV004850683 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.3121G>C (p.V1041L) alteration is located in exon 21 (coding exon 21) of the ADAMTS2 gene. This alteration results from a G to C substitution at nucleotide position 3121, causing the valine (V) at amino acid position 1041 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000815667 SCV001457814 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-01-17 no assertion criteria provided clinical testing

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