ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile) (rs1131691295)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492828 SCV000581804 uncertain significance not specified 2017-05-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PAFAH1B1 gene. The T397I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T397I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T3697I 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
GenomeConnect, ClinGen RCV000709855 SCV000840187 not provided Lissencephaly 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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