ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu)

gnomAD frequency: 0.00003  dbSNP: rs758201217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237894 SCV001410681 likely pathogenic H syndrome 2022-08-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 963811). This missense change has been observed in individual(s) with SLC29A3-related disease (PMID: 24172204, 29808591; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs758201217, gnomAD 0.05%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 324 of the SLC29A3 protein (p.Pro324Leu).
Fulgent Genetics, Fulgent Genetics RCV001237894 SCV002805561 likely pathogenic H syndrome 2022-03-27 criteria provided, single submitter clinical testing

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