ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.2958del (p.Val987fs) (rs1064793527)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483889 SCV000566336 likely pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing The c.2958delT variant in the COL1A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Valine 987, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 36 of the new reading frame, denoted p.Val987LeufsX36. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2958delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2958delT as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000844939 SCV000986757 not provided COL1A2-Related Disorder no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 01/22/2018 by GTR ID 26957. 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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