ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)

gnomAD frequency: 0.00005  dbSNP: rs770633491
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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 RCV000802065 SCV000941878 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-06-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 72 of the RAPSN protein (p.Thr72Met). This variant is present in population databases (rs770633491, gnomAD 0.006%). 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: 647539). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002495080 SCV002777437 uncertain significance Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 2022-01-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133628 SCV003813708 uncertain significance not provided 2020-11-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275250 SCV001460222 uncertain significance Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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