ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.894A>T (p.Glu298Asp)

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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 RCV004982242 SCV005587504 uncertain significance Inborn genetic diseases 2024-11-07 criteria provided, single submitter clinical testing The c.894A>T (p.E298D) alteration is located in exon 4 (coding exon 3) of the ESCO2 gene. This alteration results from a A to T substitution at nucleotide position 894, causing the glutamic acid (E) at amino acid position 298 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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