ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.985C>T (p.His329Tyr)

gnomAD frequency: 0.00001  dbSNP: rs772147307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493480 SCV002784345 uncertain significance Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 2022-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035473 SCV004936879 uncertain significance Inborn genetic diseases 2024-02-17 criteria provided, single submitter clinical testing The c.985C>T (p.H329Y) alteration is located in exon 7 (coding exon 7) of the RAPSN gene. This alteration results from a C to T substitution at nucleotide position 985, causing the histidine (H) at amino acid position 329 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278482 SCV001465496 uncertain significance Congenital myasthenic syndrome 2020-04-13 no assertion criteria provided clinical testing

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