ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) (rs761064915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169117 SCV000220320 likely pathogenic Spongy degeneration of central nervous system 2014-05-16 criteria provided, single submitter literature only
Invitae RCV000169117 SCV001394833 pathogenic Spongy degeneration of central nervous system 2019-11-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 274 of the ASPA protein (p.Gly274Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs761064915, ExAC 0.002%). This variant has been observed to segregate with Canavan disease in a family and has been observed in other affected individuals (PMID: 7668285, 16138249, 27457812, 22219087). ClinVar contains an entry for this variant (Variation ID: 188788). This variant has been reported to affect ASPA protein function (PMID: 22850825). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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