ClinVar Miner

Submissions for variant NM_172369.5(C1QC):c.538G>A (p.Val180Met)

gnomAD frequency: 0.00006  dbSNP: rs200292688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331842 SCV001523978 uncertain significance C1Q deficiency 2020-06-08 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 RCV001859286 SCV002214815 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1030316). This variant has not been reported in the literature in individuals affected with C1QC-related conditions. This variant is present in population databases (rs200292688, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 180 of the C1QC protein (p.Val180Met).
Ambry Genetics RCV002546510 SCV003720723 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.538G>A (p.V180M) alteration is located in exon 3 (coding exon 2) of the C1QC gene. This alteration results from a G to A substitution at nucleotide position 538, causing the valine (V) at amino acid position 180 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV001331842 SCV002818426 not provided C1Q deficiency no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 10-12-2021 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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