ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)

gnomAD frequency: 0.00044  dbSNP: rs144825552
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002069407 SCV002457124 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537756 SCV003724388 likely benign Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Preventiongenetics, part of Exact Sciences RCV003405480 SCV004112080 uncertain significance COL7A1-related condition 2023-06-16 criteria provided, single submitter clinical testing The COL7A1 c.3611C>T variant is predicted to result in the amino acid substitution p.Ala1204Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.15% of alleles in individuals of African descent in gnomAD, including one homozygous indivudal (http://gnomad.broadinstitute.org/variant/3-48623619-G-A), which may be too common to be causative of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV002069407 SCV004154485 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing COL7A1: BP4
Natera, Inc. RCV001277642 SCV001464606 benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-07-08 no assertion criteria provided clinical testing

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