ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.4058C>T (p.Thr1353Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002778846 SCV003592895 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.4058C>T (p.T1353I) alteration is located in exon 30 (coding exon 30) of the ARFGEF2 gene. This alteration results from a C to T substitution at nucleotide position 4058, causing the threonine (T) at amino acid position 1353 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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