ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys)

gnomAD frequency: 0.00001  dbSNP: rs782446107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244202 SCV001417406 uncertain significance Glucose-6-phosphate transport defect 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 8 of the SLC37A4 protein (p.Tyr8Cys). This variant is present in population databases (rs782446107, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 968959). 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 expected to disrupt SLC37A4 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.
PreventionGenetics, part of Exact Sciences RCV003393913 SCV004119502 uncertain significance SLC37A4-related disorder 2022-09-09 criteria provided, single submitter clinical testing The SLC37A4 c.23A>G variant is predicted to result in the amino acid substitution p.Tyr8Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-118900057-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001244202 SCV002082163 uncertain significance Glucose-6-phosphate transport defect 2020-02-21 no assertion criteria provided clinical testing

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