ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.82_84dup (p.Asn28dup)

dbSNP: rs746916491
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669554 SCV000794316 uncertain significance Maple syrup urine disease 2017-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669554 SCV001229579 uncertain significance Maple syrup urine disease 2021-08-31 criteria provided, single submitter clinical testing This variant, c.82_84dup, results in the insertion of 1 amino acid(s) to the DBT protein (p.Asn28dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746916491, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with DBT-related conditions. ClinVar contains an entry for this variant (Variation ID: 554005). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genome-Nilou Lab RCV000669554 SCV002033187 uncertain significance Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing

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