ClinVar Miner

Submissions for variant NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=)

gnomAD frequency: 0.00087  dbSNP: rs146746360
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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 RCV000350064 SCV000458135 uncertain significance Autosomal recessive nonsyndromic hearing loss 49 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, 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613003 SCV000711101 benign not specified 2017-03-16 criteria provided, single submitter clinical testing p.Thr416Thr in Exon 04 of MARVELD2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, is not located w ithin the splice consensus sequence, and has been identified in 0.6% (38/6612) o f Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNPrs146746360) and 0.7% (182/25794) of Finnish chromosomes i ncluding 2 homozygotes by the Genome Aggregation Database (gnomAD, http://gnomAD; dbSNPrs146746360).
GeneDx RCV001613173 SCV001835866 benign not provided 2020-02-24 criteria provided, single submitter clinical testing
Invitae RCV001613173 SCV002407707 benign not provided 2023-12-11 criteria provided, single submitter clinical testing

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