ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) (rs121912815)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092479 SCV001249006 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV000019058 SCV001402536 pathogenic Familial infantile myasthenia 2019-07-22 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 211 of the CHAT protein (p.Pro211Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another CHAT variant in individuals affected with congenital myasthenic syndrome and to segregate with disease in a family (PMID: 11172068, 26080897). ClinVar contains an entry for this variant (Variation ID: 17506). This variant has been reported to affect CHAT protein function (PMID: 11172068, 26080897). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019058 SCV000039345 pathogenic Familial infantile myasthenia 2001-02-13 no assertion criteria provided literature only

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