ClinVar Miner

Submissions for variant NM_000137.3(FAH):c.107T>C (p.Ile36Thr) (rs774648934)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494624 SCV000583170 likely pathogenic not provided 2015-08-31 criteria provided, single submitter clinical testing The I36T 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in a nearby residue (A35T) has been reported in the Human Gene Mutation Database in association with tyrosinemia type I (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Counsyl RCV000668209 SCV000792775 uncertain significance Tyrosinemia type I 2017-07-12 criteria provided, single submitter clinical testing

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