ClinVar Miner

Submissions for variant NM_001135022.2(ELMOD3):c.338C>A (p.Thr113Asn)

gnomAD frequency: 0.00048  dbSNP: rs201461413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757630 SCV002005783 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040701 SCV004864409 uncertain significance not specified 2023-12-26 criteria provided, single submitter clinical testing The c.338C>A (p.T113N) alteration is located in exon 6 (coding exon 5) of the ELMOD3 gene. This alteration results from a C to A substitution at nucleotide position 338, causing the threonine (T) at amino acid position 113 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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