ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.359T>C (p.Ile120Thr)

gnomAD frequency: 0.00009  dbSNP: rs147451395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721458 SCV000535023 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331798 SCV001523921 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001331798 SCV003266881 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-05-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 120 of the DSE protein (p.Ile120Thr). This variant is present in population databases (rs147451395, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 391864). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.

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