ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His)

gnomAD frequency: 0.00001  dbSNP: rs781818534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001858448 SCV002269805 uncertain significance not provided 2023-04-09 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSPEAR protein function. ClinVar contains an entry for this variant (Variation ID: 684487). This variant has not been reported in the literature in individuals affected with TSPEAR-related conditions. This variant is present in population databases (rs781818534, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 559 of the TSPEAR protein (p.Tyr559His).
GenomeConnect, ClinGen RCV000844976 SCV000986802 not provided Autosomal recessive nonsyndromic hearing loss 98 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03/06/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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