ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)

gnomAD frequency: 0.00006  dbSNP: rs114000443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002744674 SCV003737871 uncertain significance Inborn genetic diseases 2021-07-26 criteria provided, single submitter clinical testing The c.3696C>G (p.S1232R) alteration is located in exon 3 (coding exon 3) of the SALL1 gene. This alteration results from a C to G substitution at nucleotide position 3696, causing the serine (S) at amino acid position 1232 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003594316 SCV004277994 uncertain significance Townes syndrome 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1232 of the SALL1 protein (p.Ser1232Arg). This variant is present in population databases (rs114000443, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SALL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2398773). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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