ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.1292T>C (p.Val431Ala)

gnomAD frequency: 0.00046  dbSNP: rs201414473
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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 RCV001985508 SCV002219310 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 431 of the COL18A1 protein (p.Val431Ala). This variant is present in population databases (rs201414473, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002563463 SCV003679725 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.1292T>C (p.V431A) alteration is located in exon 10 (coding exon 10) of the COL18A1 gene. This alteration results from a T to C substitution at nucleotide position 1292, causing the valine (V) at amino acid position 431 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Brain Gene Registry RCV003326006 SCV004032159 not provided Knobloch syndrome 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-21-2021 by Lab Invitae. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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