ClinVar Miner

Submissions for variant NM_001041.4(SI):c.695G>A (p.Arg232His)

gnomAD frequency: 0.00003  dbSNP: rs747345955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893164 SCV002158362 uncertain significance not provided 2022-06-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 232 of the SI protein (p.Arg232His). This variant is present in population databases (rs747345955, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SI-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SI protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002482715 SCV002787457 uncertain significance Sucrase-isomaltase deficiency 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001893164 SCV003927440 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV004970421 SCV005499700 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.695G>A (p.R232H) alteration is located in exon 7 (coding exon 6) of the SI gene. This alteration results from a G to A substitution at nucleotide position 695, causing the arginine (R) at amino acid position 232 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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