ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.17G>T (p.Gly6Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002975488 SCV003282746 benign not provided 2022-06-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731306 SCV005336596 uncertain significance SLC1A2-related disorder 2024-05-04 no assertion criteria provided clinical testing The SLC1A2 c.17G>T variant is predicted to result in the amino acid substitution p.Gly6Val. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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