ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1668G>A (p.Trp556Ter)

dbSNP: rs1557045704
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657772 SCV000779525 pathogenic not provided 2018-05-11 criteria provided, single submitter clinical testing The c.1668 G>A nucleotide substitution, resulting in the W556X nonsense variant in this individual, has not been reported previously as a pathogenic or benign variant to our knowledge. However, a different nucleotide substitution (c.1667 G>A) that also results in the W556X nonsense variant was previously identified in a male individual with creatine transporter deficiency, supporting the functional importance of this position in the protein (Betsalel et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W556X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W556X as a pathogenic variant.

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