ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6305C>T (p.Ser2102Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002353961 SCV002655995 uncertain significance Cardiovascular phenotype 2022-01-19 criteria provided, single submitter clinical testing The p.S2102F variant (also known as c.6305C>T), located in coding exon 44 of the DMD gene, results from a C to T substitution at nucleotide position 6305. The serine at codon 2102 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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