ClinVar Miner

Submissions for variant NM_001375505.1(MAP2):c.5144G>A (p.Arg1715His)

dbSNP: rs1166578294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839321 SCV002099313 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041046 SCV003747185 uncertain significance not specified 2021-11-09 criteria provided, single submitter clinical testing The c.5144G>A (p.R1715H) alteration is located in exon 13 (coding exon 10) of the MAP2 gene. This alteration results from a G to A substitution at nucleotide position 5144, causing the arginine (R) at amino acid position 1715 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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