NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) AND Macular dystrophy with central cone involvement

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)]

NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)

MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
  • NC_000004.12:g.127920826A>G
  • NG_008657.1:g.50159T>C
  • NM_001363520.2:c.1160T>C
  • NM_001363521.2:c.1046T>C
  • NM_001371590.1:c.1226T>C
  • NM_001371591.1:c.1370T>C
  • NM_001371592.1:c.1367T>C
  • NM_001371593.1:c.1247T>C
  • NM_001371594.1:c.1214T>C
  • NM_001371595.1:c.1079T>C
  • NM_001371596.2:c.1361T>CMANE SELECT
  • NM_152778.4:c.1361T>C
  • NP_001350449.1:p.Met387Thr
  • NP_001350450.1:p.Met349Thr
  • NP_001358519.1:p.Met409Thr
  • NP_001358520.1:p.Met457Thr
  • NP_001358521.1:p.Met456Thr
  • NP_001358522.1:p.Met416Thr
  • NP_001358523.1:p.Met405Thr
  • NP_001358524.1:p.Met360Thr
  • NP_001358525.1:p.Met454Thr
  • NP_689991.1:p.Met454Thr
  • LRG_833t1:c.1361T>C
  • LRG_833t2:c.1361T>C
  • LRG_833:g.50159T>C
  • LRG_833p1:p.Met454Thr
  • LRG_833p2:p.Met454Thr
  • NC_000004.11:g.128841981A>G
  • NM_152778.2:c.1361T>C
Protein change:
dbSNP: rs559155109
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001363520.2:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363521.2:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371590.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371591.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371592.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371593.1:c.1247T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371594.1:c.1214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371595.1:c.1079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371596.2:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152778.4:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]


Macular dystrophy with central cone involvement (CCMD)
MONDO: MONDO:0014515; MedGen: C4015371; OMIM: 616170

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001760131Genomics England Pilot Project,Genomics Englandno assertion criteria provided
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomics England Pilot Project,Genomics England, SCV001760131.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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