ClinVar Miner

Submissions for variant NM_001041.4(SI):c.178T>C (p.Ser60Pro)

gnomAD frequency: 0.00002  dbSNP: rs755487744
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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 RCV001872573 SCV002121200 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 60 of the SI protein (p.Ser60Pro). This variant is present in population databases (rs755487744, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1360738). 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 RCV002489996 SCV002782923 uncertain significance Sucrase-isomaltase deficiency 2021-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671466 SCV005166408 uncertain significance Inborn genetic diseases 2024-06-13 criteria provided, single submitter clinical testing The c.178T>C (p.S60P) alteration is located in exon 3 (coding exon 2) of the SI gene. This alteration results from a T to C substitution at nucleotide position 178, causing the serine (S) at amino acid position 60 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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