ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn)

gnomAD frequency: 0.00013  dbSNP: rs146872525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700439 SCV000829193 uncertain significance Bethlem myopathy 1A 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 2557 of the COL6A3 protein (p.Ile2557Asn). This variant is present in population databases (rs146872525, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 577635). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV003279019 SCV003985857 uncertain significance Inborn genetic diseases 2023-04-13 criteria provided, single submitter clinical testing The c.7670T>A (p.I2557N) alteration is located in exon 37 (coding exon 36) of the COL6A3 gene. This alteration results from a T to A substitution at nucleotide position 7670, causing the isoleucine (I) at amino acid position 2557 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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