ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1955C>T (p.Thr652Met)

gnomAD frequency: 0.00006  dbSNP: rs146936233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090337 SCV001245828 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV001090337 SCV002162653 uncertain significance not provided 2023-04-29 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCC6 protein function. ClinVar contains an entry for this variant (Variation ID: 870732). This variant has not been reported in the literature in individuals affected with ABCC6-related conditions. This variant is present in population databases (rs146936233, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 652 of the ABCC6 protein (p.Thr652Met).

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