ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)

dbSNP: rs368217486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951885 SCV001098334 likely benign Amyotrophic lateral sclerosis type 21 2023-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000951885 SCV003808298 uncertain significance Amyotrophic lateral sclerosis type 21 2022-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169466 SCV003888501 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.2318A>C (p.Y773S) alteration is located in exon 16 (coding exon 12) of the MATR3 gene. This alteration results from a A to C substitution at nucleotide position 2318, causing the tyrosine (Y) at amino acid position 773 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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