ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)

gnomAD frequency: 0.00008  dbSNP: rs761575154
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000782252 SCV002028467 likely benign not provided 2021-12-22 criteria provided, single submitter clinical testing Reported in two unrelated patients with vesicoureteral reflux in published literature (Hwang et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24429398)
Mendelics RCV002249483 SCV002519996 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Invitae RCV002535705 SCV003250062 uncertain significance Townes syndrome 2022-07-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 633685). This missense change has been observed in individual(s) with SALL1-related conditions (PMID: 24429398). This variant is present in population databases (rs761575154, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 580 of the SALL1 protein (p.Ile580Val).
Gharavi Laboratory, Columbia University RCV000782252 SCV000920743 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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