ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile)

gnomAD frequency: 0.00036  dbSNP: rs147502239
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087388 SCV000762305 likely benign Biotin-responsive basal ganglia disease 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733532 SCV000861609 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000733532 SCV003845520 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003953140 SCV004781363 uncertain significance SLC19A3-related disorder 2024-06-07 no assertion criteria provided clinical testing The SLC19A3 c.436G>A variant is predicted to result in the amino acid substitution p.Val146Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of African descent in gnomAD, including one homozygote. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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