ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)

gnomAD frequency: 0.00002  dbSNP: rs781788935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766506 SCV000574015 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing The T1540I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T1540I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T1540I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory, University of Chicago RCV000482310 SCV000595110 uncertain significance not specified 2016-07-28 criteria provided, single submitter clinical testing
Invitae RCV002526976 SCV003277836 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-11-15 criteria provided, single submitter clinical testing

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