ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.412G>A (p.Gly138Ser)

gnomAD frequency: 0.00003  dbSNP: rs756723612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069839 SCV001235036 uncertain significance Townes syndrome 2019-01-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SALL1-related conditions. This variant is present in population databases (rs756723612, ExAC 0.005%). This sequence change replaces glycine with serine at codon 138 of the SALL1 protein (p.Gly138Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine.
GeneDx RCV002469341 SCV002765170 likely benign not provided 2022-12-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002505657 SCV002815653 uncertain significance Townes-Brocks syndrome 1 2022-01-18 criteria provided, single submitter clinical testing

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