ClinVar Miner

Submissions for variant NM_178040.4(ERC1):c.2122G>C (p.Glu708Gln)

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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 RCV004160332 SCV003639070 uncertain significance not specified 2022-02-11 criteria provided, single submitter clinical testing The c.2122G>C (p.E708Q) alteration is located in exon 1 (coding exon 1) of the ERC1 gene. This alteration results from a G to C substitution at nucleotide position 2122, causing the glutamic acid (E) at amino acid position 708 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003953999 SCV004776425 likely benign ERC1-related disorder 2019-03-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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