ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.26A>C (p.Gln9Pro)

dbSNP: rs1554659746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623557 SCV000742006 likely pathogenic Inborn genetic diseases 2017-01-12 criteria provided, single submitter clinical testing
Invitae RCV002298710 SCV002595980 likely pathogenic Arthrogryposis, distal, type 1A 2023-08-09 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 521421). This missense change has been observed in individual(s) with clinical features of autosomal dominant congenital myopathy (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 9 of the TPM2 protein (p.Gln9Pro).

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