ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1064793165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478591 SCV000565109 likely pathogenic not provided 2014-07-01 criteria provided, single submitter clinical testing A novel F328Y variant that is likely pathogenic was identified in the LIAS gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The F328Y 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 highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Eurofins Ntd Llc (ga) RCV000478591 SCV000703149 uncertain significance not provided 2016-11-29 criteria provided, single submitter clinical testing

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