ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.898A>T (p.Thr300Ser)

gnomAD frequency: 0.00001  dbSNP: rs766735416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626795 SCV000747498 uncertain significance Varicose disease; Inguinal hernia; Bruising susceptibility; Aortic root aneurysm; Gastrointestinal carcinoma; Prominent superficial blood vessels; Dilatation of the sinus of Valsalva; Colorectal polyposis 2017-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311284 SCV001501396 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Invitae RCV002529795 SCV003455896 uncertain significance Supravalvar aortic stenosis 2023-08-29 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ELN protein function. ClinVar contains an entry for this variant (Variation ID: 523433). This variant has not been reported in the literature in individuals affected with ELN-related conditions. This variant is present in population databases (rs766735416, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 300 of the ELN protein (p.Thr300Ser).

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