ClinVar Miner

Submissions for variant NM_000587.4(C7):c.1411A>T (p.Thr471Ser)

gnomAD frequency: 0.00003  dbSNP: rs371379073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336961 SCV001530500 uncertain significance Complement component 7 deficiency 2018-12-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865857 SCV002286977 uncertain significance not provided 2024-02-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 471 of the C7 protein (p.Thr471Ser). This variant is present in population databases (rs371379073, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with C7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034275). 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 C7 protein function with a negative predictive value of 80%. 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.

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