ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.316C>T (p.Arg106Cys) (rs587777175)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038327 SCV001201792 pathogenic Hereditary motor and sensory neuropathy, Okinawa type; Spastic paraplegia 57, autosomal recessive 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 106 of the TFG protein (p.Arg106Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs587777175, ExAC 0.009%). This variant has been observed in individuals with autosomal recessive hereditary spastic paraplegia (PMID: 23479643, 27492651, 29971521). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 100909). This variant has been reported to affect TFG protein function (PMID: 23479643, 27492651, 30157421). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000087273 SCV000120136 pathogenic Spastic paraplegia 57, autosomal recessive 2013-03-26 no assertion criteria provided literature only

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