ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) (rs1553508706)

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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 RCV000590393 SCV000695365 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.2247A>G (p.Pro749Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts a damaging outcome for this variant. 2/5 splice prediction tools predict a significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SF2/ASF. However, these predictions have yet to be confirmed by functional studies. This variant is absent in approximately 59998 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. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000634730 SCV000756072 likely benign Ehlers-Danlos syndrome, type 4 2017-09-04 criteria provided, single submitter clinical testing

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