ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val)

gnomAD frequency: 0.00001  dbSNP: rs752218005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000191966 SCV000657532 uncertain significance Brown-Vialetto-van Laere syndrome 1 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 312 of the SLC52A3 protein (p.Ala312Val). This variant is present in population databases (rs752218005, gnomAD 0.003%). This missense change has been observed in individual(s) with Brown–Vialetto–Van Laere syndrome (PMID: 22718020, 33189404). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 210021). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneReviews RCV000191966 SCV000246221 not provided Brown-Vialetto-van Laere syndrome 1 no assertion provided literature only

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