ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) (rs104894538)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697040 SCV000825630 pathogenic Townes syndrome 2018-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln323*) 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 a family affected with an atypical form of Townes-Brock syndrome or TBS (PMID: 14755477). ClinVar contains an entry for this variant (Variation ID: 7434). Loss-of-function variants in SALL1 are known to be pathogenic (PMID: 9973281, 16088922, 23069192). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000989601 SCV001140103 pathogenic Townes-Brocks syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000007859 SCV000028064 pathogenic Townes-Brocks-branchiootorenal-like syndrome 2004-02-15 no assertion criteria provided literature only

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