ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1567A>C (p.Asn523His)

dbSNP: rs780055379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001921070 SCV002188850 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 523 of the SI protein (p.Asn523His). 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: 1415745). This variant has not been reported in the literature in individuals affected with SI-related conditions. This variant is present in population databases (rs780055379, gnomAD 0.0009%).
Fulgent Genetics, Fulgent Genetics RCV002479406 SCV002782734 uncertain significance Sucrase-isomaltase deficiency 2021-07-07 criteria provided, single submitter clinical testing

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