ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) (rs1553508338)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588154 SCV000695358 likely pathogenic Ehlers-Danlos syndrome, type 4 2016-11-28 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.1762G>A (p.Gly588Ser) variant involves the alteration of a conserved nucleotide located in the first position of exon 25. 5/5 in silico tools predict a damaging outcome for this variant. 2/5 splice prediction tools predict the variant to result in weaking of the a canonical splice acceptor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121398 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. However, the majority of identified pathogenic variants in COL3A1 result in substitution of other amino acids for glycine residues in the Gly-X-Y triplets of the major helical domain where this variant is located. Therefore, this variant has been classified as likely pathogenic.
Ambry Genetics RCV000618155 SCV000738527 likely pathogenic Cardiovascular phenotype 2019-07-23 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Structural Evidence;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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