ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) (rs769625871)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674479 SCV000799822 uncertain significance Non-ketotic hyperglycinemia 2018-05-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000674479 SCV000966999 likely pathogenic Non-ketotic hyperglycinemia 2018-10-09 criteria provided, single submitter clinical testing The p.Ala678del variant in GLDC has been reported in one individual with glycine encephalopathy who carried a deletion of exons 3-21 in trans (Swanson 2015). It has also been identified in 1/111670 of European chromosomes by gnomAD (http:// gnomad.broadinstitute.org). This variant is a deletion of one amino acid at posi tion 678 and is not predicted to alter the protein reading-frame. In summary, al though additional studies are required to fully establish its clinical significa nce, the p.Ala678del variant is likely pathogenic. ACMG/AMP criteria applied: PM 2, PM3, PP4, PM4_Supporting.

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