Is MTM1 p.Asp310= (c.930C>T) pathogenic?

MTM1 p.Asp310= (c.930C>T) is classified Likely benign in MTM1 (ClinVar, Single submitter, 2 submitters; last evaluated 2023-08-04). Ultra-rare (popmax 0.0461%, mid); Associated with X-linked myotubular myopathy.

What condition is associated with MTM1 p.Asp310= (c.930C>T)?

MTM1 p.Asp310= (c.930C>T) is associated with X-linked myotubular myopathy (ClinVar).

How common is MTM1 p.Asp310= (c.930C>T) in the general population?

MTM1 p.Asp310= (c.930C>T) is ultra-rare (popmax 0.0461%, mid) (gnomAD).

How is X-linked centronuclear myopathy inherited?

Typically X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

MTM1 p.Asp310=

c.930C>T · rs1603196546 · VCV736146

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0461%, mid)

Conditions

X-linked myotubular myopathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.32	acceptor gain · deltas
Constraint at this position
Conservation	phyloP 1.8	GERP 2.2, phastCons 1
Overall
CADD	16.83	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0461% Middle Eastern · 2/4,335 alleles

Filtering AF 0.00816% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00341%

Overall 0.000331% 4/1,209,026 alleles · ultra-rare exomes 4/1,095,547 · genomes 0/113,479 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0461%	2,168
Remaining individualsnot grpmax-eligible	0.00421%	23,776

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: MTM1
Protein: p.Asp310=
Coding: c.930C>T
MANE Select: NM_000252
dbSNP: rs1603196546
Type: single nucleotide variant
Location: chrX:150649778 (GRCh38)
Structure: AlphaFold pLDDT 90.10
Residue 310: the myotubularin phosphatase domain

Full MTM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

X-linked myotubular myopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For X-linked centronuclear myopathy (Orphanet):

Inheritance: X-linked recessive
Onset: Antenatal, Neonatal
Prevalence: 1-9 / 100 000 (France)

Similar variants

MTM1 c.1644+1G>A Pathogenic ★★★ same condition
MTM1 p.Arg224Ter Pathogenic ★★★ same condition
MTM1 p.Arg69Cys Pathogenic ★★★ same condition
MTM1 p.Gln451= Likely pathogenic ★★★ same condition
MTM1 p.Glu404Lys Pathogenic ★★★ same condition
MTM1 p.Pro205Leu Pathogenic ★★★ same condition
MTM1 p.Trp230Arg Likely pathogenic ★★★ same condition
MTM1 p.Tyr192Cys Likely pathogenic ★★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mtm1-p-asp310 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown