ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001358261 SCV001651915 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001358261 SCV001553943 uncertain significance not provided no assertion criteria provided clinical testing The COL7A1 p.Pro2847Ser variant was not identified in the literature nor was it identified in ClinVar or LOVD 3.0. The variant was identified in dbSNP (ID: rs140041143) and in control databases in 54 of 281580 chromosomes (1 homozygous) at a frequency of 0.0001918 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: African in 33 of 24756 chromosomes (freq: 0.001333), Other in 5 of 7208 chromosomes (freq: 0.000694), Latino in 4 of 35318 chromosomes (freq: 0.000113), European (non-Finnish) in 10 of 128604 chromosomes (freq: 0.000078) and South Asian in 2 of 30414 chromosomes (freq: 0.000066), but was not observed in the Ashkenazi Jewish, East Asian, or European (Finnish) populations. The p.Pro2847 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) 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 (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) 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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