ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met)

gnomAD frequency: 0.00004  dbSNP: rs776104367
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566703 SCV001790264 uncertain significance not provided 2021-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002552027 SCV003253619 uncertain significance Townes syndrome 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1279 of the SALL1 protein (p.Thr1279Met). This variant has not been reported in the literature in individuals affected with SALL1-related conditions. This variant is present in population databases (rs776104367, gnomAD 0.005%). ClinVar contains an entry for this variant (Variation ID: 829915). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002552026 SCV003759008 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.3836C>T (p.T1279M) alteration is located in exon 3 (coding exon 3) of the SALL1 gene. This alteration results from a C to T substitution at nucleotide position 3836, causing the threonine (T) at amino acid position 1279 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029863 SCV001192651 uncertain significance Townes-Brocks syndrome 1 2019-10-24 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.