ClinVar Miner

Submissions for variant NM_005412.6(SHMT2):c.1133A>G (p.Asp378Gly)

gnomAD frequency: 0.00001  dbSNP: rs766445638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001376167 SCV001573219 likely pathogenic Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 2020-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416295 SCV004109847 uncertain significance SHMT2-related disorder 2023-05-19 criteria provided, single submitter clinical testing The SHMT2 c.1133A>G variant is predicted to result in the amino acid substitution p.Asp378Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-57627541-A-G). 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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