ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg)

gnomAD frequency: 0.00001  dbSNP: rs774949603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578628 SCV001805883 uncertain significance Abetalipoproteinaemia 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004946722 SCV005447713 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.2674G>A (p.G892R) alteration is located in exon 19 (coding exon 18) of the MTTP gene. This alteration results from a G to A substitution at nucleotide position 2674, causing the glycine (G) at amino acid position 892 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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