ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser)

gnomAD frequency: 0.00001  dbSNP: rs771012175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036704 SCV001200081 uncertain significance Bethlem myopathy 1 2019-11-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs771012175, ExAC 0.002%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with COL6A1-related conditions. This sequence change replaces asparagine with serine at codon 530 of the COL6A1 protein (p.Asn530Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine.

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