ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) (rs761053549)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951173 SCV001097543 likely benign not provided 2017-07-24 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group,Broad Institute RCV001254690 SCV001430753 uncertain significance Townes-Brocks syndrome 1 2020-05-28 criteria provided, single submitter research The heterozygous p.Ala235Thr variant in SALL1 was identified by our study in 1 individual with Townes-Brocks syndrome (PMID: 30143558). It is of note that this variant was inherited from a reportedly unaffected father and has been identified in 0.001% (2/113744) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs761053549). Clinical variability in Townes-Brocks syndrome has been previously described (PMID: 20520617). So, although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ala235Thr variant is uncertain. ACMG/AMP Criteria applied: PP3 (Richards 2015).

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