ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) (rs201358272)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191089 SCV000245486 pathogenic Charcot-Marie-Tooth disease type 2D 2014-11-20 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found in our laboratory three times: in a 19-year-old male with delays, contractures, hyperextensibility, severe scoliosis, limb malformations, peripheral neuropathy (and a molecularly confirmed CMT1a diagnosis), inherited from a mother with CMT1a, ptosis, hypermobility; in an 11-year-old male with axial dystonia and scoliosis, inherited from a mother with weakness; in a 58-year-old male with progressive neurologic disease, weakness, fatigue, diffuse pain, muscle atrophy, difficulty walking
Invitae RCV000860828 SCV001000992 benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790259 SCV000929659 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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