ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.698T>C (p.Val233Ala)

gnomAD frequency: 0.00037  dbSNP: rs141324048
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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 RCV002995120 SCV003294869 likely benign not provided 2024-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004632134 SCV005120920 uncertain significance not specified 2024-04-15 criteria provided, single submitter clinical testing The c.698T>C (p.V233A) alteration is located in exon 5 (coding exon 5) of the HMCN1 gene. This alteration results from a T to C substitution at nucleotide position 698, causing the valine (V) at amino acid position 233 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003963539 SCV004783755 likely benign HMCN1-related disorder 2023-10-10 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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