ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.7304T>A (p.Ile2435Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002579305 SCV003491182 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004073439 SCV003741340 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.7304T>A (p.I2435N) alteration is located in exon 46 (coding exon 46) of the HMCN1 gene. This alteration results from a T to A substitution at nucleotide position 7304, causing the isoleucine (I) at amino acid position 2435 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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