ClinVar Miner

Submissions for variant NM_001734.5(C1S):c.902A>G (p.Asn301Ser)

dbSNP: rs782630063
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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 RCV002042751 SCV002293993 uncertain significance not provided 2021-03-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs782630063, ExAC 0.001%). This sequence change replaces asparagine with serine at codon 301 of the C1S protein (p.Asn301Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant has not been reported in the literature in individuals with C1S-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV002642132 SCV003601713 uncertain significance Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing The c.902A>G (p.N301S) alteration is located in exon 8 (coding exon 7) of the C1S gene. This alteration results from a A to G substitution at nucleotide position 902, causing the asparagine (N) at amino acid position 301 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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