ClinVar Miner

Submissions for variant NM_000587.4(C7):c.1436C>T (p.Pro479Leu)

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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 RCV002585233 SCV003492450 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 479 of the C7 protein (p.Pro479Leu). This variant is present in population databases (rs747361977, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with C7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV004068794 SCV004917353 uncertain significance Inborn genetic diseases 2023-09-29 criteria provided, single submitter clinical testing The c.1436C>T (p.P479L) alteration is located in exon 11 (coding exon 11) of the C7 gene. This alteration results from a C to T substitution at nucleotide position 1436, causing the proline (P) at amino acid position 479 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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