ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.731_737delinsAGAA (p.Leu244_Leu246delinsGlnLys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555962 SCV005045047 uncertain significance Townes-Brocks syndrome 1 2024-02-09 criteria provided, single submitter clinical testing The SALL1 c.731_737delinsAGAA (p.Leu244_Leu246delinsGlnLys) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant is predicted to cause a change in the length of the protein due to an in-frame deletion of one amino acid in a non-repeat region and a missense change of two other amino acids. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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