ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys)

dbSNP: rs1038179177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332115 SCV001524322 uncertain significance Rafiq syndrome 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035731 SCV004901053 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.1028A>G (p.Y343C) alteration is located in exon 7 (coding exon 7) of the MAN1B1 gene. This alteration results from a A to G substitution at nucleotide position 1028, causing the tyrosine (Y) at amino acid position 343 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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