ClinVar Miner

Submissions for variant NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe)

gnomAD frequency: 0.00001  dbSNP: rs397514657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236548 SCV000292688 pathogenic not provided 2022-04-13 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with this variant resulting in impaired riboflavin transport activity (Console et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23243084, 34428344, 33468503, 32855765)
OMIM RCV000033238 SCV000057094 pathogenic Brown-Vialetto-van Laere syndrome 2 2013-02-01 no assertion criteria provided literature only
GeneReviews RCV000033238 SCV000246239 not provided Brown-Vialetto-van Laere syndrome 2 no assertion provided literature only

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