ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met)

dbSNP: rs1339426358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002284964 SCV002573591 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-02-25 criteria provided, single submitter clinical testing A heterozygous missense variant in exon 7 of the COL5A1 gene that results in the amino acid substitution of Methionine for Threonine at codon 348 was detected. The observed variant c.1043C>T (p.Thr348Met) has not been reported in the 1000 genomes and has a MAF of 0.002% in the gnomAD databases. The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT and MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Invitae RCV002284964 SCV004526414 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-11-03 criteria provided, single submitter clinical testing

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