ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)

gnomAD frequency: 0.00003  dbSNP: rs145197671
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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 RCV000687777 SCV000815363 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-04-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 66 of the RAPSN protein (p.Ala66Thr). This variant is present in population databases (rs145197671, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. ClinVar contains an entry for this variant (Variation ID: 567634). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003133514 SCV003813727 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026274 SCV004935803 uncertain significance Inborn genetic diseases 2024-02-17 criteria provided, single submitter clinical testing The c.196G>A (p.A66T) alteration is located in exon 2 (coding exon 2) of the RAPSN gene. This alteration results from a G to A substitution at nucleotide position 196, causing the alanine (A) at amino acid position 66 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829902 SCV002089174 uncertain significance Congenital myasthenic syndrome 2019-11-11 no assertion criteria provided clinical testing

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