ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr)

dbSNP: rs886054688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276461 SCV000415466 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317517 SCV000415467 uncertain significance Rabson-Mendenhall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372115 SCV000415468 uncertain significance Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003765910 SCV004651438 uncertain significance not provided 2023-04-29 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 INSR protein function. ClinVar contains an entry for this variant (Variation ID: 330449). This variant has not been reported in the literature in individuals affected with INSR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 978 of the INSR protein (p.Phe978Tyr).

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