ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)

gnomAD frequency: 0.00007  dbSNP: rs376502783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.
PreventionGenetics, part of Exact Sciences 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.

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