ClinVar Miner

Submissions for variant NM_001080442.3(SLC38A8):c.922A>G (p.Thr308Ala)

gnomAD frequency: 0.00051  dbSNP: rs142821762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336143 SCV001529452 uncertain significance Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 2018-08-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546764 SCV003274032 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 308 of the SLC38A8 protein (p.Thr308Ala). This variant is present in population databases (rs142821762, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with clincial features of foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA) (PMID: 29345414). ClinVar contains an entry for this variant (Variation ID: 1033658). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC38A8 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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