ClinVar Miner

Submissions for variant NM_000065.5(C6):c.1205T>C (p.Ile402Thr)

gnomAD frequency: 0.00011  dbSNP: rs139261476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810619 SCV001474465 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480933 SCV002785661 uncertain significance Complement component 6 deficiency 2021-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810619 SCV003287090 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 402 of the C6 protein (p.Ile402Thr). This variant is present in population databases (rs139261476, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with C6-related conditions. ClinVar contains an entry for this variant (Variation ID: 994396). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV004035552 SCV004917324 uncertain significance Inborn genetic diseases 2022-08-11 criteria provided, single submitter clinical testing The c.1205T>C (p.I402T) alteration is located in exon 9 (coding exon 8) of the C6 gene. This alteration results from a T to C substitution at nucleotide position 1205, causing the isoleucine (I) at amino acid position 402 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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