ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp)

gnomAD frequency: 0.00002  dbSNP: rs773577908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346167 SCV000351943 uncertain significance Age related macular degeneration 1 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV002522082 SCV002977655 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258742 SCV003948238 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.12963G>C (p.E4321D) alteration is located in exon 84 (coding exon 84) of the HMCN1 gene. This alteration results from a G to C substitution at nucleotide position 12963, causing the glutamic acid (E) at amino acid position 4321 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000346167 SCV004180579 uncertain significance Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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