ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1766_1767insAA (p.Phe589fs)

dbSNP: rs1582812173
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008578 SCV001168351 likely pathogenic not provided 2019-02-12 criteria provided, single submitter clinical testing The c.1766_1767insAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Phenylalanine 589, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Phe589LeufsX18. This variant is predicted to cause loss of normal protein function through protein truncation. We interpret this variant as likely pathogenic.

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