ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Payam Genetics Center, General Welfare Department of North Khorasan Province RCV003227458 SCV003924021 pathogenic Charcot-Marie-Tooth disease type 4C 2023-03-01 no assertion criteria provided clinical testing The SH3TC2 c.1691A>G (p.Asp564Gly) is a missens mutation and results at the protein level is a dysfunctional predicted lead to disease. This variant is not present in 1000 Genome,ExAC, GnomAD exome, genome Iranian population databases. This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions. Homozygote c.1691A>G mutation on the SH3TC2 gene has been detected at 21 years old female suffering from Charcot_Marie_Tooth disease and she has not deletion/duplication on the PMC22 gene and her parents are relative. For these reasons, this variant has been classified as Pathogenic.

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