ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.469G>A (p.Asp157Asn)

gnomAD frequency: 0.00001  dbSNP: rs767282486
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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 RCV001983525 SCV002271637 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 157 of the COL7A1 protein (p.Asp157Asn). This variant is present in population databases (rs767282486, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1489975). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt COL7A1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003418294 SCV004109616 uncertain significance COL7A1-related disorder 2023-06-23 criteria provided, single submitter clinical testing The COL7A1 c.469G>A variant is predicted to result in the amino acid substitution p.Asp157Asn. To our knowledge, this variant has not been reported in the literature. This variant is present in one allele out of 251,164 alleles in the gnomAD database (http://gnomad.broadinstitute.org/variant/3-48630840-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004976093 SCV005569414 uncertain significance Inborn genetic diseases 2024-11-11 criteria provided, single submitter clinical testing The c.469G>A (p.D157N) alteration is located in exon 4 (coding exon 4) of the COL7A1 gene. This alteration results from a G to A substitution at nucleotide position 469, causing the aspartic acid (D) at amino acid position 157 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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