ClinVar Miner

Submissions for variant NM_172369.5(C1QC):c.706G>A (p.Val236Ile)

gnomAD frequency: 0.00002  dbSNP: rs774542072
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002208773 SCV002495935 uncertain significance C1Q deficiency 2021-03-04 criteria provided, single submitter clinical testing C1QC NM_172369.4 exon 3 p.Val236Ile (c.706G>A): This variant has not been reported in the literature but is present in 0.002% (2/68038) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-22647751-G-A?dataset=gnomad_r3). This variant amino acid Isoleucine (Ile) is present in >15 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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