ClinVar Miner

Submissions for variant NM_001041.4(SI):c.2338A>G (p.Met780Val)

gnomAD frequency: 0.00001  dbSNP: rs770724135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947389 SCV002133810 uncertain significance not provided 2022-11-08 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SI protein function. ClinVar contains an entry for this variant (Variation ID: 1367638). This variant has not been reported in the literature in individuals affected with SI-related conditions. This variant is present in population databases (rs770724135, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 780 of the SI protein (p.Met780Val).
Fulgent Genetics, Fulgent Genetics RCV002506919 SCV002814726 uncertain significance Sucrase-isomaltase deficiency 2024-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968391 SCV005499702 uncertain significance Inborn genetic diseases 2024-07-09 criteria provided, single submitter clinical testing The c.2338A>G (p.M780V) alteration is located in exon 21 (coding exon 20) of the SI gene. This alteration results from a A to G substitution at nucleotide position 2338, causing the methionine (M) at amino acid position 780 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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