Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003053009 | SCV003446942 | likely benign | not provided | 2025-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003073644 | SCV003545067 | uncertain significance | Inborn genetic diseases | 2022-02-11 | criteria provided, single submitter | clinical testing | The c.809C>T (p.T270M) alteration is located in exon 6 (coding exon 6) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 809, causing the threonine (T) at amino acid position 270 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003404038 | SCV004120356 | uncertain significance | COL7A1-related disorder | 2022-11-03 | criteria provided, single submitter | clinical testing | The COL7A1 c.809C>T variant is predicted to result in the amino acid substitution p.Thr270Met. This variant was reported in an individual with dystrophic epidermolysis bullosa (Yu et al 2021. PubMed ID: 34046686). This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-48630245-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |