ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.1276G>A (p.Val426Ile)

gnomAD frequency: 0.00002  dbSNP: rs1231702573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174380 SCV001337518 likely benign Monogenic diabetes 2017-12-01 criteria provided, single submitter research ACMG criteria: PP3 (5 predictors), BP4 (6 predictors), BP5 (alternate cause) = likely benign
Ambry Genetics RCV002558768 SCV003613725 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.1276G>A (p.V426I) alteration is located in exon 5 (coding exon 5) of the SLC19A2 gene. This alteration results from a G to A substitution at nucleotide position 1276, causing the valine (V) at amino acid position 426 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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