ClinVar Miner

Submissions for variant NM_001172504.1(SLC6A2):c.1584C>G (p.Phe528Leu) (rs1085307494)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490050 SCV000576582 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing The F528L variant in the SLC6A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The F528L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F528L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Phenylalanine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret F528L as a variant of uncertain significance
GenomeConnect, ClinGen RCV000509239 SCV000607176 not provided SLC6A2-related disorder 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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