ClinVar Miner

Submissions for variant NM_004172.5(SLC1A3):c.1511_1517del (p.Asn504fs)

dbSNP: rs2111991276
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768936 SCV001993725 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation as the last 39 amino acids are lost and replaced with 7 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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