ClinVar Miner

Submissions for variant NM_001041.4(SI):c.2795A>G (p.Asn932Ser)

gnomAD frequency: 0.00001  dbSNP: rs1474224236
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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 RCV001879007 SCV002146759 uncertain significance not provided 2021-04-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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) performed at Invitae indicates that this missense variant is not expected to disrupt SI protein function. This variant has not been reported in the literature in individuals with SI-related conditions. This sequence change replaces asparagine with serine at codon 932 of the SI protein (p.Asn932Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine.
Ambry Genetics RCV002551649 SCV003653327 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.2795A>G (p.N932S) alteration is located in exon 25 (coding exon 24) of the SI gene. This alteration results from a A to G substitution at nucleotide position 2795, causing the asparagine (N) at amino acid position 932 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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