ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.10532A>G (p.Glu3511Gly)

gnomAD frequency: 0.00063  dbSNP: rs143629026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048487 SCV002300074 likely benign not provided 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004927797 SCV005599009 uncertain significance not specified 2024-09-27 criteria provided, single submitter clinical testing The c.10532A>G (p.E3511G) alteration is located in exon 68 (coding exon 68) of the HMCN1 gene. This alteration results from a A to G substitution at nucleotide position 10532, causing the glutamic acid (E) at amino acid position 3511 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003948876 SCV004759238 likely benign HMCN1-related disorder 2023-04-28 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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