ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) (rs1560674852)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700186 SCV000828931 uncertain significance Pyruvate dehydrogenase lipoic acid synthetase deficiency 2019-08-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the LIAS gene (p.Thr369Argfs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acids of the LIAS protein, and to extend the protein by an additional 11 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LIAS-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids 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.

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