ClinVar Miner

Submissions for variant NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn) (rs137854544)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000000412 SCV000267150 pathogenic Combined deficiency of sialidase AND beta galactosidase 2014-07-01 criteria provided, single submitter research
Invitae RCV000000412 SCV001378293 pathogenic Combined deficiency of sialidase AND beta galactosidase 2019-06-15 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine, at codon 267 of the CTSA protein (p.Tyr267Asn). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is present in population databases (rs137854544, ExAC 0.002%). This variant has been observed in several individuals affected with galactosialidosis (PMID: 8968752, 24769197, 8514852, 22386972, 8968752, Invitae). This variant is also known in the literature as c.751T>A (p.Tyr221Asn) and c.746T>A (p.Y249N) in the literature. ClinVar contains an entry for this variant (Variation ID: 381). This variant has been reported to affect CTSA protein function (PMID: 8968752,10333491, 8514852, 10944848). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000412 SCV000020556 pathogenic Combined deficiency of sialidase AND beta galactosidase 2015-04-14 no assertion criteria provided literature only
OMIM RCV000000413 SCV000020557 pathogenic Galactosialidosis, late infantile 1996-12-01 no assertion criteria provided literature only

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