ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met)

gnomAD frequency: 0.00016  dbSNP: rs142756842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557432 SCV000653536 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-10-23 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000557432 SCV000746552 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-04-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200565 SCV001371561 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530226 SCV003702676 uncertain significance Inborn genetic diseases 2021-04-30 criteria provided, single submitter clinical testing The c.169G>A (p.V57M) alteration is located in exon 2 (coding exon 2) of the B3GALNT2 gene. This alteration results from a G to A substitution at nucleotide position 169, causing the valine (V) at amino acid position 57 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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