ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356939 SCV001552240 uncertain significance not provided no assertion criteria provided clinical testing The COL7A1 p.R1243W variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs1189017197) and in control databases in 3 of 251292 chromosomes at a frequency of 0.00001194 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: South Asian in 2 of 30616 chromosomes (freq: 0.000065) and Latino in 1 of 34588 chromosomes (freq: 0.000029), but was not observed in the African, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), or Other populations. The p.R1243 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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