ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2315+2T>A

dbSNP: rs1554643738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673967 SCV000799231 likely pathogenic Glycine encephalopathy 2018-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673967 SCV002234846 pathogenic Glycine encephalopathy 2021-12-22 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with GLDC-related conditions (PMID: 27362913). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change affects a donor splice site in intron 19 of the GLDC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 557785). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000673967 SCV002797761 likely pathogenic Glycine encephalopathy 2022-04-22 criteria provided, single submitter clinical testing

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