ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.76C>T (p.Leu26=)

gnomAD frequency: 0.00001  dbSNP: rs1057518832
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414995 SCV000492690 uncertain significance Global developmental delay; Progressive microcephaly; Neurodegeneration; Central hypoventilation; Brain atrophy 2015-10-06 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196239 SCV001366792 uncertain significance Optic atrophy 9 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. This variant was inherited from a parent.
Neuberg Centre For Genomic Medicine, NCGM RCV003388580 SCV004100566 pathogenic Acute intermittent porphyria criteria provided, single submitter clinical testing The missense variant p.R26C in HMBS (NM_000190.4) has been reported previously in multiple affected patients (Dragneva S et al, Méndez M et al). Functional studies reveal a damaging effect (Mustajoki S et al, Ulbrichova D et al). The variant has been submitted to ClinVar as Pathogenic. The missense variant c.76C>T (p.R26C) in HMBS (NM_000190.4) is observed in 1/34592 (0.0029%) alleles from individuals of Latino background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. For these reasons, this variant has been classified as Pathogenic.

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