ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) (rs1553934069)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627392 SCV000748386 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing The c.277delC variant in the LIAS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.277delC variant causes a frameshift, changing codon Leucine 93 to a premature Stop codon, denoted p.Leu93Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, loss-of-function is not a known mechanism of disease for the LIAS gene. The c.277delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.277delC as a variant of uncertain significance.
Invitae RCV001208252 SCV001379630 pathogenic Pyruvate dehydrogenase lipoic acid synthetase deficiency 2019-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu93*) in the LIAS gene. It is expected to result in an absent or disrupted protein product. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 523916). Loss-of-function variants in LIAS are known to be pathogenic (PMID: 24334290, 27923773). For these reasons, this variant has been classified as Pathogenic.

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