ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser)

gnomAD frequency: 0.00006  dbSNP: rs150398575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070191 SCV001235408 uncertain significance H syndrome 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 375 of the SLC29A3 protein (p.Asn375Ser). This variant is present in population databases (rs150398575, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SLC29A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 863259). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001070191 SCV003920480 uncertain significance H syndrome 2022-10-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.01% (8/68066) (https://gnomad.broadinstitute.org/variant/10-71362304-A-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:863259). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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