ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) (rs765114036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484662 SCV000570907 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing The A66T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A66T variant is observed in 130/29,670 (0.4%) alleles from individuals of Latino background (Lek et al., 2016). The A66T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001088666 SCV000654119 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 2019-12-31 criteria provided, single submitter clinical testing

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