ClinVar Miner

Submissions for variant NM_001041.4(SI):c.580G>T (p.Val194Phe)

gnomAD frequency: 0.00001  dbSNP: rs371768147
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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 RCV001895906 SCV002147653 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 194 of the SI protein (p.Val194Phe). 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: 1384314). This variant has not been reported in the literature in individuals affected with SI-related conditions. This variant is present in population databases (rs371768147, gnomAD 0.006%).
Fulgent Genetics, Fulgent Genetics RCV002482656 SCV002791614 uncertain significance Sucrase-isomaltase deficiency 2021-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247097 SCV003939583 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.580G>T (p.V194F) alteration is located in exon 6 (coding exon 5) of the SI gene. This alteration results from a G to T substitution at nucleotide position 580, causing the valine (V) at amino acid position 194 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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