ClinVar Miner

Submissions for variant NM_001916.5(CYC1):c.11C>T (p.Ala4Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002576388 SCV002929361 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 4 of the CYC1 protein (p.Ala4Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CYC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1900186). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Revvity Omics, Revvity RCV003146584 SCV003830376 uncertain significance Mitochondrial complex III deficiency nuclear type 6 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004064398 SCV004852800 uncertain significance not specified 2024-04-09 criteria provided, single submitter clinical testing The c.11C>T (p.A4V) alteration is located in exon 1 (coding exon 1) of the CYC1 gene. This alteration results from a C to T substitution at nucleotide position 11, causing the alanine (A) at amino acid position 4 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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