ClinVar Miner

Submissions for variant NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001281677 SCV001469022 uncertain significance Familial renal glucosuria 2021-01-04 criteria provided, single submitter clinical testing This SLC5A2 variant (rs750441217) is rare (<0.1%) in a large population dataset (gnomAD: 4/241356 total alleles; 0.002%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be damaging, and the leucine residue at this position is highly evolutionarily conserved across all species assessed. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.1388T>C to be uncertain at this time.

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