ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys)

gnomAD frequency: 0.00011  dbSNP: rs766087023
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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 RCV001171508 SCV002459167 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2021-10-16 criteria provided, single submitter clinical testing
School of Bio-Medicine, Mongolian National University of Medical Sciences RCV001171508 SCV001192832 likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2018-03-01 no assertion criteria provided clinical testing The Arg162Cys variant in the BICD2 gene was detected in a boy with proximal dystrophy in Tibialis anterior muscle and abductor Hallicus muscle. While walking, he showed a waddling gait and Gowers' sign.

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