ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)

dbSNP: rs863223475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197580 SCV000249894 pathogenic not provided 2014-03-15 criteria provided, single submitter clinical testing Although the c.5357dupT variant in the COL5A1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Aspartic acid 1787, changing it to a Glycine, and creating a premature stop codon at position 33 of the new reading frame, denoted p.Asp1787GlyfsX33. This variant is expected to result in an abnormal, truncated protein product. Numerous other frameshift mutations in the COL5A1 gene have been reported in association with classic-type EDS (Malfait F et al., 2011).In summary, c.5357dupT in the COL5A1 gene is interpreted as a pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV002492887 SCV002778796 pathogenic Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-12-16 criteria provided, single submitter clinical testing

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