ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) (rs144321760)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000328115 SCV000401982 uncertain significance Spongy degeneration of central nervous system 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000328115 SCV000794264 uncertain significance Spongy degeneration of central nervous system 2017-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000328115 SCV000896611 uncertain significance Spongy degeneration of central nervous system 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000328115 SCV001414217 uncertain significance Spongy degeneration of central nervous system 2019-11-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 170 of the ASPA protein (p.Ile170Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs144321760, ExAC 0.05%). This variant has been observed in individuals with ASPA-related disease (PMID: 28101991). ClinVar contains an entry for this variant (Variation ID: 322633). This variant has been reported to affect ASPA protein function (PMID: 28101991). 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252156 SCV001427906 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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