ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4538T>C (p.Met1513Thr)

dbSNP: rs1560012143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762380 SCV000892692 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533905 SCV003652918 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.4538T>C (p.M1513T) alteration is located in exon 27 (coding exon 24) of the MYLK gene. This alteration results from a T to C substitution at nucleotide position 4538, causing the methionine (M) at amino acid position 1513 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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