ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002920001 SCV003655455 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.1088T>G (p.L363R) alteration is located in exon 9 (coding exon 9) of the B3GALNT2 gene. This alteration results from a T to G substitution at nucleotide position 1088, causing the leucine (L) at amino acid position 363 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143554 SCV003829691 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-04-02 criteria provided, single submitter clinical testing

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