ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) (rs104894537)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792529 SCV000931832 pathogenic Townes syndrome 2020-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg276*) in the SALL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of Townes-Brocks syndrome (PMID: 9973281, 19005989, 10533063). ClinVar contains an entry for this variant (Variation ID: 7428). This variant has been reported to affect SALL1 protein function (PMID:29395072). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000007853 SCV001430043 pathogenic Townes-Brocks syndrome 1 2020-04-17 criteria provided, single submitter clinical testing
OMIM RCV000007853 SCV000028058 pathogenic Townes-Brocks syndrome 1 2001-07-01 no assertion criteria provided literature only
GeneReviews RCV000007853 SCV000258633 pathogenic Townes-Brocks syndrome 1 2016-01-14 no assertion criteria provided literature only

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