ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs)

dbSNP: rs794728004
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494398 SCV000583227 likely pathogenic not provided 2022-09-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 28 amino acids are replaced with 63 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26072523, 20206331, 23107375, 34797406)
Revvity Omics, Revvity RCV000494398 SCV002023572 likely pathogenic not provided 2020-12-07 criteria provided, single submitter clinical testing
OMIM RCV000000162 SCV000020305 pathogenic Brown-Vialetto-van Laere syndrome 1 2010-03-12 no assertion criteria provided literature only
GeneReviews RCV000000162 SCV000246229 pathogenic Brown-Vialetto-van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only

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