ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.420del (p.Ser141fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203386 SCV001374549 pathogenic Townes syndrome 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser141Alafs*42) in the SALL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SALL1 are known to be pathogenic (PMID: 9973281, 12915476, 16088922, 23069192). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Townes-Borck syndrome (PMID: 9973281, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 934902). For these reasons, this variant has been classified as Pathogenic.

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