ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)

gnomAD frequency: 0.00007  dbSNP: rs368996545
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725921 SCV000340525 uncertain significance not provided 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000274960 SCV000576712 likely benign not specified 2018-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000703034 SCV000831914 likely benign Duchenne muscular dystrophy 2024-08-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725921 SCV000883732 uncertain significance not provided 2017-12-26 criteria provided, single submitter clinical testing The DMD p.Thr3616Ala variant (rs368996545) has not been reported in the medical literature, nor has it been previously identified in our laboratory. The p.Thr3616Ala variant is listed in the Genome Aggregation Database (gnomAD) browser with an overall allele frequency of 0.0039% (identified in 7 out of 178,443 chromosomes), and is classified as a variant of uncertain significance in ClinVar (Variant ID: 286925). The threonine at codon 3616 is highly conserved considering 7 species up to chicken (Alamut software v2.10.0), but computational analyses predict conflicting effects of this variant on protein structure/function (SIFT: tolerated, PolyPhen2: benign, MutationTaster: disease causing). Based on the available information, the clinical significance of the p.Thr3616Ala variant cannot be determined with certainty.
Revvity Omics, Revvity RCV000725921 SCV003829534 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992159 SCV005566462 uncertain significance Cardiovascular phenotype 2024-07-20 criteria provided, single submitter clinical testing The p.T3616A variant (also known as c.10846A>G), located in coding exon 76 of the DMD gene, results from an A to G substitution at nucleotide position 10846. The threonine at codon 3616 is replaced by alanine, an amino acid with similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0027% (5/183156) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0076% (1/13151) of African alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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