ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys)

gnomAD frequency: 0.00038  dbSNP: rs137942830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001096680 SCV001252905 likely benign Age related macular degeneration 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001856307 SCV002220391 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032011 SCV003714540 uncertain significance not specified 2021-11-09 criteria provided, single submitter clinical testing The c.13855C>A (p.Q4619K) alteration is located in exon 89 (coding exon 89) of the HMCN1 gene. This alteration results from a C to A substitution at nucleotide position 13855, causing the glutamine (Q) at amino acid position 4619 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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